ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1668del (p.Asp557fs)

dbSNP: rs1569083679
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV000851562 SCV004037366 pathogenic Fanconi anemia complementation group B 2020-10-19 criteria provided, single submitter clinical testing The c.1668delT variant is a heterozygous single-base deletion in exon 8 (out of 10 exons) of the FANCB (NM_001018113.3) gene. It causes a frameshift at amino acid position 557, changing aspartic acid at this position to isoleucine and resulting in a premature stop codon 21 residues downstream (p.Asp557Ilefs*21). This variant is predicted to cause loss-of-function of the protein by nonsense mediated mRNA decay. It is absent in the Genome Aggregation Database (gnomAD), indicating that it is not a common benign variant in the populations represented therein. This variant in hemizygous state has been previously reported as 1650delT in a male patient with Fanconi anemia complementation group B (PMID: 15502827 and 17924555). It has also been reported in the ClinVar database as pathogenic by two submitters (Variation ID: 562389, last accessed 10/19/2020). Based on these reasons, it is classified here as a pathogenic variant.
OMIM RCV000851562 SCV000031847 pathogenic Fanconi anemia complementation group B 2004-11-01 no assertion criteria provided literature only
Gharavi Laboratory, Columbia University RCV000681853 SCV000809331 pathogenic not provided 2018-09-16 no assertion criteria provided research
Leiden Open Variation Database RCV000851562 SCV000994636 pathogenic Fanconi anemia complementation group B 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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