ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.992A>G (p.Asp331Gly) (rs150008448)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443991 SCV000516600 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000443991 SCV000593544 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV000862591 SCV001003115 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001147813 SCV001308659 likely benign Seckel syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center of Medical Genetics and Primary Health Care RCV001005028 SCV000987287 uncertain significance Familial cancer of breast 2020-04-08 no assertion criteria provided research ACMG Guidelines 2015 criteria PP4 Pathogenic Supporting: The patient has family history of breast cancer BS1 Benign Strong: GnomAD exomes allele frequency = 0.0014 > 0.000388 derived from the 207 clinically reported variants in gene ATR of which 6 PATH, 97 VUS and 104 BEN. BP1 Benign Supporting: 32 out of 32 non-VUS missense variants in gene ATR are BEN = 100.0% > threshold of 51.0%, and 104 out of 207 clinically reported variants in gene ATR are BEN = 50.2% > threshold of 24.0%. BP4 Benign Supporting: 10 benign predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, REVEL and SIFT vs no pathogenic predictions and the position is not conserved. Therefore, there is insufficient information and this variant was classified as a Variant of Unknown Significance.

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