NM_000059.4(BRCA2):c.9501+1G>A AND Familial cancer of breast

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV000585647.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.9501+1G>A]

NM_000059.4(BRCA2):c.9501+1G>A

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.9501+1G>A
HGVS:
  • NC_000013.11:g.32394934G>A
  • NG_012772.3:g.84455G>A
  • NM_000059.4:c.9501+1G>AMANE SELECT
  • NM_001406719.1:c.9405+1G>A
  • NM_001406720.1:c.9450+1G>A
  • NM_001406721.1:c.4569+1G>A
  • NM_001406722.1:c.3084+1G>A
  • LRG_293t1:c.9501+1G>A
  • LRG_293:g.84455G>A
  • NC_000013.10:g.32969071G>A
  • NM_000059.3:c.9501+1G>A
Links:
dbSNP: rs397508058
NCBI 1000 Genomes Browser:
rs397508058
Molecular consequence:
  • NM_000059.4:c.9501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.9405+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.9450+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.4569+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.3084+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693550GeneKor MSA
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneKor MSA, SCV000693550.2

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

Description

This variant is a substitution of the first nucleotide base of intron 25 of the BRCA2 gene. This position is conserved in the human and other genomes and might be involved in mRNA processing. Therefore, this variant is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The mutation database ClinVar contains entries for this variant (Variation ID: 52853).

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

Last Updated: Apr 20, 2024