Variant · Deletion

FANCB NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)

CI-VAR-00123981Explore in graph →p.Ser500fsNM_001018113.3:c.1497_2580delClinVar 691306

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
691306	Pathogenic	no assertion criteria provided	0	Fanconi anemia complementation group B	germline	1	Sep 27, 2019	clinvar

Nomenclature

Record

Gene: FANCB
Type: Deletion
HGVS c.: NM_001018113.3:c.1497_2580del
HGVS p.: p.Ser500fs
Assembly: GRCh38
Position: chrX:14843566-14845286
Ref / Alt: ATTATAAATTACTCAGTTTCTGTGCAGCAAAGTCTGATTTCAACTGAACCTCAGCTACTTTCAAAGTTATTTCTCTGTAAAGGGCACCACTCACTTTTAGGTTCGTTTGCAACATTTTCTTCTTTTCTCTCTGAAGTTCTTTTCTGTAGGGATGGATATTTTCCCTTCTGTCTGATAAAGCAGCCGCGACGACACTACTCTTTCCTTTGCTCACTTCACACCTCTGCATAAAATTGCTTTCATGTTTAGCTATGGCAGAAGAAAGAGAACTAAGGGTGACTAGTTCCTTCTCCAAAGTAAATGCCATATTATCAATTAGGAAATTCTCACTTCCTGATTTTAGATTTTTGAGGAAACAGTTTATAGGGAGAATTCTGATGAGATTATGAAGGCACTGGAACATAACTGTTTGATTCCTAAAATAAAAAAACAAACAAAATATTACAAAAATTAGGACAGCACAAAGCAGTCATGTACAATATACTGCAGTAATCAATTAATATTCATTTATAAACACCATAATGATAAACAGAACCAATTATGTACGTGAGCATTGATAAAATTCAGACTACAGCAATCAAATATACATATTCCATATCGAATCAGTTAATATTAATCAGATTGTTTCCAATTAAAATTTTTTTTGCTGAGTAATAAGGTCAATATAATATTTTTTTAAATTTTACTGTGGAGGAGAGGTAACGGGAAATCTCAAAATAATTACTAGGCACTAAAAAAAGCCAAAAACAAATATAAAATTAAAACAGAGATCTTCAGTTTCTAAATGAAGCCGATGCGTTCATTCATGCTAGGCCATGGCTCTGTATTATTGCCATGGCAATAATACAAAACACATGCGGATCGCTGTTGAACCACACATTGATCACACTCATACACACTCACTTCTCTGGACCAATTACAATTTAATATGCATTACCTGGAATAGATTATTAAAATCCCTTCGAATGGTGTTCTCTGTTTCCAAGTGAAGAGTGTCCCATAGAAACTTCCCGGTCTTTCACAAAAGTACACTTCTGGAAATTCTTTGATTATTTCACATTTCATATGTTCTAAGAGCCACACCTTCATTGAATTCAGGGCATAGCCGGGTGATGTGATTTGAAAACAAGATTTATGGAATGCTGCAAGAAGTGCAAAAAGATCTTCCATGTGCTCTACAAAAAAAGTCACAAGCTCTATCATTAAACTCTGCCCATTATCAGATAAACAGAATTCTTAAAATTTTCTAATTCAATTAAATATATAATCTAAAAGTGCCAACAAAATTACCTATAGGTTTCTTCTTTGGAAATGTCAGTAGGTACTTCCCAGTTGAAAGATCTTCTAGACTTAAAAAAACTCTGCCACACACAACATAACGATCTTTAGGACAGTTACCACTTTCTCTCTCCATAATTTGTAGCAGTACAGTGCAACAAAATTTACTGAATGTTAAAAGTGGTGAAAGAGATGTTACAGCAGTAATTATCTGTACACACTCTTTCTTAGATGGGTGTTCACAAACAAAGCTTTCCTCTTTCTTGCTATCAGGGGTCAACGTGACCCTTTTTGCTTCCAATCCTATTTCACATGGCATCAAGTATGGTGCTGGGAAAGGATTTGTACTCAACTTAATCACCCTATTTTGACACTTTAGAAGCCGAAATCTGGAGTCATGGGCTTGATCCATTAACAATGATAAAGTCACATCATTCAGGGAC → A