ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)

dbSNP: rs770318990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203795 SCV000259618 pathogenic Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1209Leufs*10) in the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant is present in population databases (rs770318990, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 219634). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002478726 SCV002782550 pathogenic Fanconi anemia complementation group I 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000203795 SCV003929160 likely pathogenic Fanconi anemia 2023-04-06 criteria provided, single submitter clinical testing Variant summary: FANCI c.3626_3627delGT (p.Cys1209LeufsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar and associated with Fancomi Anemia in HGMD. The variant allele was found at a frequency of 4e-06 in 251472 control chromosomes. c.3626_3627delGT has been reported in the literature in families with hereditary breast and ovarian cancer (Tavera-Tapia_2017, Quezada-Urban_2018, etc.). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=2). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV002478726 SCV004199193 likely pathogenic Fanconi anemia complementation group I 2023-10-17 criteria provided, single submitter clinical testing

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