ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) (rs145192583)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556834 SCV000626304 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001194161 SCV001363471 benign not specified 2019-12-12 criteria provided, single submitter clinical testing Variant summary: FANCI c.2817G>T (p.Lys939Asn) results in a non-conservative amino acid change located in the FANCI solenoid 3 domain (IPR029313) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00035 in 251414 control chromosomes, predominantly at a frequency of 0.0039 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.2817G>T 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.

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