ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=)

gnomAD frequency: 0.00018  dbSNP: rs745494968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590723 SCV000699905 benign not provided 2017-01-26 criteria provided, single submitter clinical testing Variant summary: The FAM175A c.63G>A (p.Gln21Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. However, these predictions have yet to be confirmed by functional studies. This variant was found in 31/110674 control chromosomes at a frequency of 0.0002801, which is approximately 9 times the estimated maximal expected allele frequency of a pathogenic FAM175A variant (0.0000313), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
Invitae RCV000590723 SCV001010223 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461903 SCV002755451 likely benign Hereditary cancer-predisposing syndrome 2022-02-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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