ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)

dbSNP: rs770930270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773114 SCV000906599 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203883 SCV001375063 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 41 of the BRIP1 protein (p.His41Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs770930270, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 628588). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000773114 SCV002657206 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-19 criteria provided, single submitter clinical testing The p.H41Y variant (also known as c.121C>T), located in coding exon 2 of the BRIP1 gene, results from a C to T substitution at nucleotide position 121. The histidine at codon 41 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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