ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.290C>T (p.Thr97Ile)

dbSNP: rs431825393
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Total submissions: 4
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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 RCV000590538 SCV000698986 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.290C>T variant affects a conserved nucleotide, resulting in an amino acid change from Thr to Ile. 4/5 in-silico tools predict this variant to be damaging. This variant was not found in 121310 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV001317837 SCV001508514 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399, 32546644). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 133721). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 97 of the BRCA1 protein (p.Thr97Ile).
ITMI RCV000120266 SCV000084418 not provided not specified 2013-09-19 no assertion provided reference population
Brotman Baty Institute, University of Washington RCV001072776 SCV001238221 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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