NM_000059.4(BRCA2):c.7914del (p.Pro2639fs) AND not provided

Germline classification:: 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:: RCV000238889.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.7914del (p.Pro2639fs)]

NM_000059.4(BRCA2):c.7914del (p.Pro2639fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.7914del (p.Pro2639fs)

HGVS:

NC_000013.11:g.32362631del
NG_012772.3:g.52152del
NM_000059.4:c.7914delMANE SELECT
NP_000050.3:p.Pro2639fs
LRG_293:g.52152del
NC_000013.10:g.32936768del
NM_000059.3:c.7914delT
p.(Pro2639LeufsTer9)

Protein change:

P2639fs

Links:

dbSNP: rs879255332

NCBI 1000 Genomes Browser:

rs879255332

Molecular consequence:

NM_000059.4:c.7914del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296833	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296833

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000296833.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change deletes one base from exon 17 of the BRCA2 mRNA (c.7914delT), causing a frameshift after codon 2639 and the creation of a premature translation stop signal 9 amino acid residues later, p.(Pro2639Leufs*9). This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. The mutation database Clinvar contains entries for this variant (Variation ID:252448).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine