NM_000059.4(BRCA2):c.1499del (p.Gly500fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 3, 2022
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:: RCV000565720.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.1499del (p.Gly500fs)]

NM_000059.4(BRCA2):c.1499del (p.Gly500fs)

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.1499del (p.Gly500fs)

HGVS:

NC_000013.10:g.32907112del
NC_000013.11:g.32332977del
NG_012772.3:g.22498del
NM_000059.4:c.1499delMANE SELECT
NP_000050.3:p.Gly500fs
LRG_293:g.22498del
NC_000013.10:g.32907112del
NC_000013.10:g.32907114del
NC_000013.10:g.32907114del
NC_000013.10:g.32907114delG
NM_000059.3:c.1499delG
p.Gly500ValfsX9

Nucleotide change:

1727delG

Links:

dbSNP: rs397507591

NCBI 1000 Genomes Browser:

rs397507591

Molecular consequence:

NM_000059.4:c.1499del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000668865	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 3, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11802209, 19941162 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668865

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 3, 2022)

germline

clinical testing

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

Citation Link

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

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A; German Consortium for Hereditary Breast and Ovarian Cancer.

Int J Cancer. 2002 Feb 1;97(4):472-80.

PubMed [citation]

PMID:: 11802209

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.

Breast Cancer Res Treat. 2010 Jul;122(1):287-97. doi: 10.1007/s10549-009-0639-z. Epub 2009 Nov 26.

PubMed [citation]

PMID:: 19941162

Details of each submission

From Ambry Genetics, SCV000668865.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.1499delG pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 1499, causing a translational frameshift with a predicted alternate stop codon (p.G500Vfs*9). This alteration, designated 1727delG, was detected in 2/989 unrelated individuals from a cohort of German breast/ovarian cancer families (Meindl A et al. Int. J. Cancer, 2002 Feb;97:472-80). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 25, 2025

ClinVar

Relating variation to medicine