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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.

Human genetics - 1 Jun 2023

Zemet Roni, Du Haowei, Gambin Tomasz, Lupski James R, Liu Pengfei, Stankiewicz Paweł

Abstract excerpt

We previously reported a fetus with Fanconi anemia (FA), complementation group O due to compound heterozygous variants involving RAD51C. Interestingly, the trio exome sequencing analysis also detected eight apparent de novo mosaic variants with variant allele fraction (VAF) ranging between 11.5 and 37%. Here, using whole genome sequencing and a 'home-brew' variant filtering pipeline and DeepMosaic module, we...

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Identifiers

PMID: 37031326
DOI: 10.1007/s00439-023-02550-4
PMCID: PMC10996436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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