Variant · Deletion

FANCC NM_000136.3(FANCC):c.-1_249del250 (p.Ala2fs)

CI-VAR-00378628Explore in graph →p.Ala2fsNM_000136.3:c.-1_249del250ClinVar 3780850

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
3780850	Pathogenic	criteria provided, single submitter	1	Fanconi anemia complementation group C	germline	1	Mar 07, 2019	clinvar

Nomenclature

Record

Gene: FANCC
Type: Deletion
HGVS c.: NM_000136.3:c.-1_249del250
HGVS p.: p.Ala2fs
Assembly: GRCh38
Position: chr9:95247431-95249291
Ref / Alt: CCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCATTATGCAACTTAGAAATACTGAACTGACATTATAGATTGAGGGAACGTGAATGCTTCTTGTTTAGTATACCATTTTTAAAAGTAAGCACAAAAGGATTAGAGAAGATCTTTAGGTAAGTAATTCAAATAAAGTTTAAAAAGCAACCAACCAACTTACTTCATCCTTAAATGGGGTCACCAAACTAAGATGTATGACATAGGTAAAATCAATTGTGTTGCAAAATTAATTCTACTCATACTTAATAGTCAGTAAAGGCTACTTTATTTAAAAATAATAAAGACTGCTTAAGAGTTGAAAACACATTATTGGTGATTAATAACTATATAATCCCGTATCTTTATCCTGGTTTTTTTATTCTAACATAAGAGAGGTTACGAACTCAGCTCCAGTAAGACTATTTCAAAGAAGAAGGTTTAAAGGGATGAGAACTCTGGAACTTGTAAAAAGAAATAAAAGCAGCCAAAGCATAAATGTATATATCTGTTTATTACTATTTTGAGTACTGTATGGCAAATGACATCATAGTCTGTAACAATCTAAACCCTGAAATAGAAAAAGGATCAACCAAATAGAAAACAGCTTAAGATTTAAAAACACACATGCATGCTATTGTACAACCGGACCTTTTTCCACTTGTTACCTTTCATAAAATTTCAAAAATAAAAGCAAACTAGGATAACATGCAGGTAAGCCGACACAATGGGCACTTTCTGCTACTGCAGCAAAACATCTCTCACATGTGTCCCAGCATCAAGCCTGGTCCTACACTTTTTGGGACCATATAAAGGTCAAGTTACGTATGTCTCATTAAAAAAACAATTCTAAAAATTAGCATCGGTTGTTCACACAGACTGTATCTTTCCTTATAGTTTCTAAAGACATATGAACTCATATTATCAATACAAATTATTCTTCAAATTTCCTATTTACTCTTTGATTAAGGGAAGAAAAGCTTAACACAAGAACACTTTGTTAAGTGACAATTTTGCTTTTCATTTTGAAATTAAATACAAAATACTAGCTCATAATATAACAACATGTGCTAAATCATAAAAATATCTATCATAATAAAAGAAACATGACATCAAAATGAAAATATATTAAATTTTGAAAATAATAAATTATATAATAGTAAAGATACTCAAAATCTTAATATTTATAAAAAGTATTATAAGAAGAGATCTTAATATCTATCATCTCTTAGGACAGCCCACTTGACAAGAGGGTTGAAGAAGGGTTAAGCATGTAGCAAATTCTCCAAGATTCAAGGGACACAAAGGCCTTCAAAAGAATCCCATTTACTACTTGACAACAAGCATGAAATCTTGATTATTTAAGAACAACTTGCTTGGTCAGGAAGTGTCATGTAACAATACAGCTACTCAAGAAGAAATTATAATAATATAATAAATCGGAGACTAGGAAACCAGCTCTTGAGTAATTTGTCTTCCTAATCCATCGGCACTTCAGTCAATACCACAAGTCCCGATTCTGGGTGGCATTCTGTCTTGGTGAAATCTGGTAGAGTCCCTGAAGTCAGAAAATAATTTCATTATTCTGGTCCACTACTTACCATCTCTTTCAAGGCTTCATACATCTTCCTTAGGAACTCCTGGAACTGAGCCACGTGAAGACAGGTGTCTTGCTGGGTTTCCAAAGTGGAAGCCTGATCCCATACAGAAAGCTTCTGCATCCAAAACTGATAATCACAAGAAAGATCTACTGAATCTTGAGCCAT → C