NM_000059.4(BRCA2):c.3295del (p.Ser1099fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 9, 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:: RCV002450760.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)]

NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)

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.3295del (p.Ser1099fs)

Other names:

3522delT

HGVS:

NC_000013.11:g.32337650del
NG_012772.3:g.27171del
NM_000059.4:c.3295delMANE SELECT
NM_000059.4:c.3295delT
NP_000050.3:p.Ser1099fs
LRG_293:g.27171del
NC_000013.10:g.32911787del
NM_000059.3:c.3294delT
NM_000059.3:c.3295delT
U43746.1:n.3522delT

Protein change:

S1099fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3522&base_change=del T; dbSNP: rs80359383

NCBI 1000 Genomes Browser:

rs80359383

Molecular consequence:

NM_000059.4:c.3295del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; 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
SCV002611693	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 9, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21324516, 24961674, 28176296 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002611693

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 9, 2022)

germline

clinical testing

PubMed (3)
[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

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA.

Gynecol Oncol. 2011 May 1;121(2):353-7. doi: 10.1016/j.ygyno.2011.01.020. Epub 2011 Feb 15.

PubMed [citation]

PMID:: 21324516

The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.

Li YT, Ni D, Yang L, Zhao Q, Ou JH.

Eur J Med Res. 2014 Jun 25;19(1):35. doi: 10.1186/2047-783X-19-35.

PubMed [citation]

PMID:: 24961674
PMCID:: PMC4076498

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002611693.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.3295delT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 3295, causing a translational frameshift with a predicted alternate stop codon (p.S1099Qfs*5). This mutation has been reported in multiple breast and/or ovarian cancer cohorts (Zhang S et al. Gynecol Oncol, 2011 May;121:353-7; Li YT et al. Eur J Med Res, 2014 Jun;19:35; Shi T et al. Int J Cancer, 2017 05;140:2051-2059). Of note, this alteration is also designated as c.3294delT and 3522delT in published literature. 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: Nov 24, 2024

ClinVar

Relating variation to medicine