ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2280G>A (p.Ser760=)

gnomAD frequency: 0.00004  dbSNP: rs749959440
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163516 SCV000214074 likely benign Hereditary cancer-predisposing syndrome 2015-01-19 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.
Invitae RCV001085037 SCV000557520 likely benign Familial cancer of breast 2024-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000469571 SCV000600191 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163516 SCV000682768 likely benign Hereditary cancer-predisposing syndrome 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000506402 SCV000729085 benign not specified 2015-09-17 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.
Illumina Laboratory Services, Illumina RCV001085037 SCV001296518 uncertain significance Familial cancer of breast 2018-03-02 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506402 SCV001361278 likely benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163516 SCV002529594 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355524 SCV001550436 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The BARD1 p.Ser760= variant was not identified in the literature. The variant was identified in dbSNP (ID: rs749959440) as "with other allele" and in ClinVar (classified as likely benign by Ambry Genetics, Invitae and two other submitters and as benign by GeneDx) database. It was also identified in control databases in 6 of 246004 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 1 of 33566 chromosomes (freq: 0.00003), European in 3 of 111490 chromosomes (freq: 0.00003), East Asian in 1 of 17246 chromosomes (freq: 0.00006), and South Asian in 1 of 30778 chromosomes (freq: 0.00003), while the variant was not observed in the African, Other, Ashkenazi Jewish or Finnish populations. The p.Ser760= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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