ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val)

gnomAD frequency: 0.00150  dbSNP: rs114549781
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547520 SCV000626315 benign Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194160 SCV001363470 benign not specified 2019-12-12 criteria provided, single submitter clinical testing Variant summary: FANCI c.3865A>G (p.Ile1289Val) results in a conservative amino acid change located in the FANCI solenoid 4 domain (IPR029314) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00035 in 251470 control chromosomes, predominantly at a frequency of 0.004 within the African or African-American subpopulation in the gnomAD database, including 1 homozygote. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 14 fold of the estimated maximal expected allele frequency for a pathogenic variant in FANCI causing Fanconi anemia phenotype (0.00028), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.3865A>G in individuals affected with Fanconi anemia, complementation group I and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Sema4, Sema4 RCV000547520 SCV002529851 likely benign Fanconi anemia 2021-06-30 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003403255 SCV004137611 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FANCI: BS2
PreventionGenetics, part of Exact Sciences RCV003979941 SCV004789526 likely benign FANCI-related disorder 2020-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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