ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.969A>G (p.Pro323=) (rs13447633)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160574 SCV000213276 likely benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712329 SCV000842799 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
Counsyl RCV000409014 SCV000489360 likely benign Ataxia-telangiectasia-like disorder 1 2016-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212564 SCV000859966 benign not specified 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000212564 SCV000211159 benign not specified 2014-01-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000212564 SCV000919678 benign not specified 2018-06-22 criteria provided, single submitter clinical testing Variant summary: MRE11A c.969A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00088 in 276836 control chromosomes, predominantly at a frequency of 0.0094 within the African subpopulation in the gnomAD database, including 1 homozygotes. The observed variant frequency within African control individuals in the gnomAD database is approximately 150-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in MRE11A causing Hereditary Breast and Ovarian Cancer phenotype (6.3e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.969A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "likely benign/benign." Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000409014 SCV000260395 benign Ataxia-telangiectasia-like disorder 1 2017-12-23 criteria provided, single submitter clinical testing

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