Variant · Deletion

BRCA1 NM_001408514.1(BRCA1):c.839-3744_957del

CI-VAR-00378616Explore in graph →NM_001408514.1:c.839-3744_957delClinVar 3780832

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
3780832	Pathogenic	criteria provided, single submitter	1	Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Fanconi anemia, complementation group S	germline	1	Nov 24, 2020	clinvar

Nomenclature

Record

Gene: BRCA1
Type: Deletion
HGVS c.: NM_001408514.1:c.839-3744_957del
Assembly: GRCh38
Position: chr17:43063332-43067695
Ref / Alt: CCTCATTCAGCATTTTTCTTTCTTTAATAGACTGGGTCACCCCTAAAGAGATCATAGAAAAGACAGGTTACATACAGCAGAAGAACGTGCTCTTTTCACGGAGATAGAGAGGTCAGCGATTCACAAAAGAGCACAGGAAGAATGACAGAGGAGAGGTCCTTCCCTCTAAAGCCACAGCCCTTTAATAAGGCTTGTAGCAGCAGTTTCCTTCTGGAGACAGAGTTGATGTTTAATTTAAACATTATAAGTTTGCCTGCTGCACATGGATTCCTGCCGACTATTAAATAAATCCCTAGCTCATATGCTAACATTGCTAGGAGCAGATTAGGTCCTATTAGTTATAAAAGAGACCCATTTTCCCAGCATCACCAGCTTATCTGAACAAAGTGATATTAAAGATAAAAGTAGTTTAGTATTACAATTAAAGACCTTTTGGTAACTCAGACTCAGCATCAGCAAAAACCTTAGGTGTTAAACGTTAGGTGTAAAAATGCAATTCTGAGGTGTTAAAGGGAGGAGGGGAGAAATAGTATTATACTTACAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCTGCAGAATGAAAAACACTCAAAGGATTAGAAGTTGAAAACAAAATCAGGAAGTGCTGTCCTAAGAAGCTAAAGAGCCTCAGTTTTTTACACTCCCAAGATCAATCTGGATTTATGATTCTAAAACCCCTGGTGACAGAATCAGAGGCTGAAAACACCACTAATTATAACCAGCAGGTATGGATATTTGGAAGTCTAGGGGAGGCTGATATGAAGTTAAGACCAGAGGAAATATCTGTCCACTCCCTCTTCTCAACACCCATCTTCTAGACGCCAAGGCTAGCTATAGATCTCCATTATAGTGTTCAAGGAATTAGGAATTATCCATGTCAATAGTTTTGATTAATGTGGACGGAGAACATCTATATTACTAGATGGCAATATGTGAAAGAAGAAAACAGTATTGTTGAAAACCTAAATCTGAAATGTCAATGTAATGACAAATTTTCACCCCTAGAATGTCTACCTGGGGAGTCCTAACCCTCTAATATTCCCCTGAGAGGGATGGGAGAATACAGTGCAGAGCTTTTATATAAGTATTTCAGAAAGCAGTAGCTAAAGAATCACTTGTTTATTTCCCAGTGTTTCAAAGGCCCTTCTGAAGAACTAAGCAAACTAAGGAAAGACCATTTAGTTTTAAACAGGAGAAATGTATTTAACTAAATCCTAAACACAGCAGGCTATCTGCAAGCAGCAGCAGCAGCAGCAGCCATGCTCCCTCACAGAATCCTTACAATTTTTGAAGTTTTTTGTTTAACTGCTACAAAAGCCGATTTAGTAACATTTATTACACTTAAAAACTTCAGTTCATTTGTAGTTCAAAGCAAATGTATTGGCTTTGAGTTTAAAGACTGAACTACTTTAGATTTGATTTGCATTTTTTTTTTTTTTTTTTTTTGAGATGCAGTCTTGCTCTGTCAGCCAGGCTGGAGTGCAGTGGCTGGATCTCAGCTCACGGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCCCCCAAAGCGCTGGGATTACAGGCCTGAGCCACCACGCTTGGCATCTTTTTACCTTTCATTAACTTTGATGCAAACCTATAGCTTAAGGTATCTTAAACTTTAATGACATTTTTCTCTAAAATAGTAGTTTGTAATAACTTGTTCTGGCACCTGGCTCCAATGAACACTACCCTCTGACCCTGTGGTATAATTTTCATGAGTAAGTGGAAACCTAAGATCTTAGAAGTTCAACGGCAATGTGTCCAAGGGGTTTAGATCCTCTCCTTAAGTGCCTGTATCTCTGTGAAAAGAATCATCATAGGCTAGGCGCGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACCTGAGGTCGGGAGTCCAAGACCAGCCTGACTGACATGGAAAAACCCTGTCTCTACTAAAAATACAAAATTAGGTATGGTGGTGCATTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT → C