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NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003478884.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)]

NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
HGVS:
  • NC_000017.11:g.61857168C>T
  • NG_007409.2:g.11392G>A
  • NM_032043.2:c.269G>A
  • NM_032043.3:c.269G>AMANE SELECT
  • NP_114432.2:p.Cys90Tyr
  • LRG_300t1:c.269G>A
  • LRG_300:g.11392G>A
  • NC_000017.10:g.59934529C>T
Protein change:
C90Y
Links:
dbSNP: rs1221074399
NCBI 1000 Genomes Browser:
rs1221074399
Molecular consequence:
  • NM_032043.3:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004220712Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jul 26, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP, Bollen S, Grimbergen AJEM, van Doorn R, Gruis NA, van Asperen CJ, Hes FJ, van der Stoep N; Dutch Working Group for Clinical Oncogenetics..

Int J Cancer. 2019 May 15;144(10):2453-2464. doi: 10.1002/ijc.31984. Epub 2019 Jan 21.

PubMed [citation]
PMID:
30414346
PMCID:
PMC6590189

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220712.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0000071 (2/282858 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024