Variant · Insertion

BRCA1 NC_000017.11:g.43123461_43130816dup

CI-VAR-00310560Explore in graph →ClinVar 2692397

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
2692397	Uncertain significance	no assertion criteria provided	0	Breast-ovarian cancer, familial, susceptibility to, 1	germline	1	Mar 02, 2020	clinvar

Nomenclature

Record

Gene: BRCA1
Type: Insertion
HGVS g.: NC_000017.11:g.43123461_43130816dup
Assembly: GRCh38
Position: chr17:43123458
Ref / Alt: T → TCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTACGCCCAGCTAATTTTTGTATTTTTAGTGGAGAGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCCCTCGGCCTCATCCATGATTTTATTTTGCCATTTCAAGTGATGGAGCTTGTTTTAGAGCTGGAAGAAAAGCCAAAATGCCAGTTAATCTAAACTAGATTCCTGCCCCAGTGCAGAACCAATCAAGACAGAGTCCCTGTCTTTCCCGGACCACAGGATTTGTGTTGAAAAGGAGAGGAGTGGGAGAGGCAGAGTGGATGGAGAACAAGGAATCATTTTCTATATTTTTAAAGTTCTTCAGTTAAGAAAATCAGCAATTACAATAGCCTAATCTTACTAGACATGTCTTTTCTTCCCTAGTATGTAAGGTCAATTCTGTTCATTTGCATAGGAGATAATCATAGGAATCCCAAATTAATACACTCTTGTGCTGACTTACCAGATGGGACACTCTAAGATTTTCTGCATAGCATTAATGACATTTTGTACTTCTTCAACGCGAAGAGCAGATAAATCCATTTCTTTCTGTTCCAATGAACTTTAACACATTAGAAAAACATATATATATATCTTTTTAAAAGGTTTATAAAATGACAACTTCATTTTATCATTTTAAAATAAAGTAAATTTAAGATTTGGAAGGTTTTAGAATAATACAAACCAAAGAACTAATGACAACGTCCTTTATTTTTAAAGATTCTAGAAGTTGCTTTTTGTAATTAGACAACATAAATTCTGAATTTTTTCACATATTGCTGCCAACCCCTTGGGTCTTTTCCTTTCTCCAAGAAAGAGAAAGCTACAGAGGAGTGACTGACCGGGTAGGTGGTGGTAGCCTTAGCTTTCTCCAATGTTTCTGGTTGTTTTCTTTTTCTTGCATAAAACCAAAATCAACAACGACCAAACCAACACCAATCAAGGCCTCCCCGCCCCTAACCTTTCCCAGTGACCTGCTCTCATCTCTGGATCCTCCTCAAGCACATCCCTGCCGGCAGCATCTGTTACTACTGACGCTCCTCTACTTCCCTCTTGCGCTTTCTCAATGGCGCAAATGGATCCAGTTCTTAAGTTCTCCCTCCCACAAAATCCTGTCTCCTCCCCTTCCCAGACATATTCCTGGCACCTCTTCTTCCACAAGGTCCCATCCTCTCATACATACCAGCCGGTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCACGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCATGACCAGCCGACGTTTTTAAAGACATAGTGTCCCCCTCAAGGCATATTCCAGTTCCTATCACGAGGATTCCCCCACGGACACTCAGTGCCCCCTTCCTGATCCTCAGCGCTTCCCTCGCGACCTACAAACTGCCCCCCTCCCCAGGGTTCACAACGCCTTACGCCTCTCAGGTTCCGCCCCTACCCCCCGTCAAAGAATACCCATCTGTCAGCTTCGGAAATCCACTCTCCCACGCCAGTACCCCAGAGCATCACTTGGGCCCCCTGTCCCTTTCCCGGGACTCTACTACCTTTACCCAGAGCAGAGGGTGAAGGCCTCCTGAGCGCAGGGGCCCAGTTATCTGAGAAACCCCACAGCCTGTCCCCCGTCCAGGAAGTCTCAGCGAGCTCACGCCGCGCAGTCGCAGTTTTAATTTATCTGTAATTCCCGCGCTTTTCCGTTGCCACGGAAACCAAGGGGCTACCGCTAAGCAGCAGCCTCTCAGAATACGAAATCAAGGTACAATCAGAGGATGGGAGGGACAGAAAGAGCCAAGCGTCTCTCGGGGCTCTGGATTGGCCACCCAGTCTGCCCCCGGATGACGTAAAAGGAAAGAGACGGAAGAGGAAGAATTCTACCTGAGTTTGCCATAAAGTGCCTGCCCTCTAGCCTCTACTCTTCCAGTTGCGGCTTATTGCATCACAGTAATTGCTGTACGAAGGTCAGAATCGCTACCTATTGTCCAAAGCAGTCGTAAGAAGAGGTCCCAATCCCCCACTCTTTCCGCCCTAATGGAGGTCTCCAGTTTCGGTAAATATAAGTAATAAGGATTGTTGGGGGGGTGGAGGGAAATAATTATTTCCAGCATGCGTTGCGGAATGAAAGGTCTTCGCCACAGTGTTCCTTAGAAACTGTAGTCTTATGGAGAGGAACATCCAATACCAGAGCGGGCACAATTCTCACGGAAATCCAGTGGATAGATTGGAGACCTGTGCGCGCTTGTACTTGTCAACAGTTATGGACTGGAGTGTTATGTTTTCGTATTTTGAAAGCAGAAACTAGGCCTTAAAAAGATACGTACAACTCTTTAGGGAGACTACAATTCCCATCCAGCCCCAGGAGTCTGGGGCAAGTAGTCTTGTAAGGTCAGTGGCCTGCGGGGACGCAGTGAGCGCCGAATTTGCCTGGGGCAGGGGAAATGCGCTCTGGCCCATGTCTGCGCACTCGTAGTTCCACCCCTCAGCCCCAGTGTTTGTTATTTTTCGGGTTCAGCTTGCTTTTGCCCCGTCTCCGTCGACGCAATCGCCACCAGTCAATGGGGTGGTCGTTTTGAGGGACAAGTGGTAAGAGCCAATCTTCTTGGCGAAAACGCGGAGAAACGGGACTAGTTACTGTCTTTGTCCGCCATGTTAGATTCACCCCACAGAGATAGCGGCAGAGCTGGCAGCGGACGGTCTTTGCATTGCCGCCTCCCCAGGGGGCGGGAAGCTGGTAAGGAAGCAGCCTGGGTTAGCTAGGGGTGGGGTCACGTCACACTAAGAGGGTTTGGAGAAGTTCAAGGGAGGAATCCTGCAAAGAAGAGGGGCGACTTTTTCCGTGTCTCCGGACAGCTAATCGTTTTAGTGACAGGATGAGAGAGCCCTTCGTGTTCTGAGGGACCGAGTGGGCGAAAAGCGCCGGAGAGTTGGAGAGTCTGTGGTTCAGAATGCGAGGTGACAACGTGCTAGCAGCCCTCGCTCGCTCTCGGCGCCTCCTCGGCCTTGGCGTCCATTCTGGCCGTGCTGGAGGAGCCCTTCAGCCCGCCACTGCGCTGTGGGGGCCCCTCTCTGGGCTGGCCGAAGCCAGAGCCGGCTCCCTCTGCTTGCGGGGAAGTGTGGAGGGAGAGGCGGGTGTGGGAACTGGGGCTGCGCGCAGCGCTCGCCAGCCAGCGCGAGTTCCAGGTGGGCGCGGGCTCAGCGGGCCCCGCACCCCCGGCCCCGGGCAGTCAGGGGCCTAGCACCCGGGCCAGCAGCTGCAGAGGGTGCGCCGGGTCCCCCAGCACTGCCGGCCCGCCTGCACCCCGCTTGAATTCTCACCGGGCCCCAGCCGCCCTGCACAGGGCAAGGCTCAGGACCTGCAGCCCGCCATGCCCGAGCCCCCTCCCAACCCCTGTGAGCTCCAGCGTGGCCTGAGCCTCCCCGACGGGCACCGCCCCCTGCTCCTCAGCGCCCGGTCCCATCGACTGCCCAAGGGCTGAGAGGAGTGCAGGCGCCCGGCACAGCCCTGCGCAGGATCCACTAGGTGAAGCCAGCTGGGCTCCTGAGTCAGATGGGGACTTGGAAAACTTTTATGTCTAGCCTGAGGATTTTATATGCACCAGTCAGCACTCTGTGTCTAGCTTGGGGTTTGGGGATGCACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGCACTTGGAGAACTTCTGTGTCTAGCTAAAGGATTGTAAATGCACCAATCAGTGCTCTGTGTCTAGCTCAAGGTTTGCAAATGCACCAATCAGCACTCTGTGTCTAGCTAAAGGTTTGTAAACGCACCAATCAGTGCTCTGTGTCTAGCAAATGTAGTGGGGACTTGGAGAATTTTTATGTCTAGCTAGAGGATTGTAAATGCACCAATCAGCACTCTGTGTATATCTAGCTCAGGGATTGTAAATGCACCAATCAGCACCCTGTCAAAACGGACCAATTAGCTCTCTGTAAAATGGACCAATCAACAGGATGTGGGTGGGGTCAGATAAGGGAATAAAAGCAGGCTGCCCCGCTGGGTGCCAGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCTAGAGGGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGACTCTACTAAAAAGACAAAATATTAGCTGGGTGCGGTGGTGGGTGCCTGTAATCCCCTCTACTGGGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCACCACTGCATTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATGCAGGCTGCCTGAGCCAGCAGCAGCAACCCGCTCTGGTCTCCTTCCACGCTGTGGAAGCTTTGTTCTTGTGCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTGGGTCCGCATAGCATTTATCTGCTGGTAACACCGACCGCAGAGGTCTGCAGCTTCACTCCTGAAGCCAGCGAGACCACGAACCCACCAGGAGGAATGAACAACTCCAGACGGGAGGAACGAACAAACTCCAGACATGCCGCCTTAAGAGCTGTAACACTCACCGCAAAGGTCTGCAGCTTCACTCCTGAAGCCAGCGAGACCACGAATCCACCAGAAGGAGGTAACTCTGAACACGTCCGAACATCAGAAGGAACAAACTCTGGACACATCATCTTTAAGAACTGTACCACTCACCGTGAGGGTCCGCAACTTCATTCTTGAAGTCAGTGAGACCAAGAACCCACCAATTTCGGACACAAGAACATCCGGCTTCTACTGATGGAAGGCCACGACTCCTCAGTAGAAAGAGGGCCCAGGCAAAGAAAATGAGAGAGAGTCCTTGGGGTGGTGACACTATCTTGGGAACATGGAGTGCTAGGAAACGATAACTGGAAGACTAGGATGAAATCTGCAAGTTAAAAAATGACACTACCCATATATCCTTCTCATCCCATTCTCCTTTTTTCGAGACCCCGTTAAAGAGATCTTGGTTAGGGACCTTTGGTTTTGGAAAGGCACTGTTTCTCCTTTTTGTCAAACACTCAACTTTCAGGCCACACTTTTTTTTTTTTTTTCGAGACAAAGTCTCGCTTTCTCAAAGACCAGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACTCCCGGCCTCAGCTTGGATAACTTGGCTTGTACAGGCCTCTGGTGGAGACAGTAACCAAAGTTCGGGTTGCCAGGTTTGTTTCATTAAAGGGATTTTGTTGAGGCTGAAAGAAAAAAAAATCGATGTGGAGGAAAAGCTAACTTGTGCCAAGACAAGGTGAGTCAGTCACATGGACTTAACAATAATGTCAATTATGAAAGCTGAAGGCCTAGGACCCAGCTATCTGACTCTACTGGCTGTAGACCTAAGGAGCAGGTAGGGTTAACCATAGCTTTCGTGTTTACACACGTTCAAGATTAATGCTCTTGCTGAAAGAATTTTTTTACATGCCAGCCAAAGAGAGTTCCTTATGGAGACCTGGATATGGTCCAGCTAAGCTAGAATCTCCCACTTCCTGTTTTCTCTTAGTTGGCCCACCAGCTGGAGGAGCTCCAGAATATCTAAATTAATTTCCAATTGTGTAATTTGAGAAAAAGAGACGAAGATTAATTTCCCTAACGAGTAGGGAAGTGTGTTTCTTTTTTTTCTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCGCCCAGCCTGAAGTGCAGTGGCACGATCGCGGCTAGTGCACTGCGAACTCTGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCATCACGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGGTTTCACCGCGTTAGCCAGGATGACCTCGATCTCCTGACCTCGTGATCTGCCTTCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCAGGAAGTGTTTCTTAAAGTTGGAAAGTGGTATTTCAGAATATCCGCTTTTGGCAGACTGAGTCAGTCACTTCATTTTCCTGATTTTTTGCCTAAGGTCCTGGTGAATTGACAAAGATTCTGCCCAAATTTTAACGACCCCAGTAATTACATGTCATATGAATGAATACTTGACGTCAGCAGGACTGCGTTTTGGTGGTGAACTTGGTTCTAGGTAGAAACAAAGAATGGAGAAAACTGGGGGATAATTATCTTAGGGTTTCAAAAAAGTGCCTGATCTTCACAGACTTCAGGGTCCTTAAAATAACAGTCTTAATTGTAGTGTTTTACAGGGCAGTGCATTACATTGTCAAAAACAGTACAGGTTTATGGTTCTAATGACTGGTTTATTATTTTTAAAAATGTTTAATTGAACTTAATTTTTTTAAGGAGACAGGGTCCGGCTTTGTTGCCCAGGCTGGTCTTCAACTCCTAGGTTCACGATCCTTCCACCTCAGCCTCCCAAATTGCTAGGATTACAGGCATGAGCCACCACACCGGGCCAATTTTTTATTTTATTTTTGAGACAGAGTCTCGCTCTATCACCCAGGCGGGAGTGCAGTGGCATGATCTTGGCGCACTGCAACCTTGCCTCCCAGATTCAAGCAATTCTCTTGCCTCAGCCTCTTGAGTAGCTGGGAATACAGGCCTGCGCCACTACACCCAGCTAATTTTTGTATTTTTATTAGAGACGAAGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGGACTCAAGCGATCTGCCTGCCTCTGCTTCCCAAAATCCTGGGATTACAGACATGAGCCACTGTGCCTGGCCTGTATTATAATATTTTTATATTTGAATGACATTTTGAAAGAACTTGCATATTCATTTTTAATTTGATCCTTATGGTAACACTGTGAGATCGGCAAAACAGACATATTAGACCTATTTTACAGATTAAAGAACTGAAGCTCAAAGGTGAACTGACCTGCTCACAGTTTTATGTCTAGTAATGGGCCAGAGCTGTGTCTAGAA