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NM_000059.4(BRCA2):c.-175C>T AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Benign (2 submissions)
Last evaluated:
Jan 12, 2015
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000191545.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.-175C>T]

NM_000059.4(BRCA2):c.-175C>T

Genes:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
LOC106721785:BRCA2 promoter/silencer region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.-175C>T
Other names:
53 C>T
HGVS:
  • NC_000013.11:g.32315532C>T
  • NG_012772.3:g.5053C>T
  • NG_017006.2:g.4832G>A
  • NG_044973.1:g.1074C>T
  • NM_000059.4:c.-175C>TMANE SELECT
  • LRG_293t1:c.-175C>T
  • LRG_293:g.5053C>T
  • NC_000013.10:g.32889669C>T
  • NG_017006.1:g.1423G>A
  • NM_000059.3:c.-175C>T
Links:
dbSNP: rs55880202
NCBI 1000 Genomes Browser:
rs55880202
Molecular consequence:
  • NM_000059.4:c.-175C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000244911Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Benign
(Jan 12, 2015) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000383591Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Feb 9, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03659 (African), derived from 1000 genomes (2012-04-30).

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

From Illumina Laboratory Services, Illumina, SCV000383591.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024