NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) AND BRCA2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004542697.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)]

NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)

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.469_470del (p.Lys157fs)

HGVS:

NC_000013.11:g.32326144_32326145del
NG_012772.3:g.15665_15666del
NM_000059.4:c.469_470delMANE SELECT
NP_000050.3:p.Lys157fs
LRG_293:g.15665_15666del
NC_000013.10:g.32900281_32900282del
NC_000013.10:g.32900281_32900282delAA
NM_000059.3:c.469_470delAA
NM_000059.4:c.469_470del
NM_000059.4:c.469_470delAA

Nucleotide change:

697delAA

Links:

dbSNP: rs397507739

NCBI 1000 Genomes Browser:

rs397507739

Molecular consequence:

NM_000059.4:c.469_470del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: BRCA2-related disorder
Synonyms:: BRCA2-Related Disorders; BRCA2-related condition
Identifiers:: MedGen: CN239275

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004778560	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jan 5, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004778560

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jan 5, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004778560.2

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

Description

The BRCA2 c.469_470delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys157Valfs*25). This variant was reported in an individual with breast and prostate cancers (described as c.697delAA, Adem. 2003. PubMed ID: 12491499; Hart. 2016. PubMed ID: 27084275). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted in ClinVar as pathogenic and likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/51698/). Frameshift variants in BRCA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine