NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 14, 2024
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:: RCV001021351.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)]

NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)

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.3883C>T (p.Gln1295Ter)

HGVS:

NC_000013.11:g.32338238C>T
NG_012772.3:g.27759C>T
NM_000059.4:c.3883C>TMANE SELECT
NP_000050.2:p.Gln1295Ter
NP_000050.3:p.Gln1295Ter
LRG_293t1:c.3883C>T
LRG_293:g.27759C>T
LRG_293p1:p.Gln1295Ter
NC_000013.10:g.32912375C>T
NM_000059.3:c.3883C>T
p.(Gln1295Ter)
p.Gln1295*

Protein change:

Q1295*

Links:

dbSNP: rs879255309

NCBI 1000 Genomes Browser:

rs879255309

Molecular consequence:

NM_000059.4:c.3883C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001182958	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 14, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 28724667, 29435039, 29566657, 29752822, 30039884, 30702160 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001182958

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 14, 2024)

germline

clinical testing

PubMed (6)
[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

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.

Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. doi: 10.1158/1078-0432.CCR-16-3227. Epub 2017 Jul 19.

PubMed [citation]

PMID:: 28724667

Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.

Fang M, Zhu L, Li H, Li X, Wu Y, Wu K, Lin J, Sheng Y, Yu Y.

Oncol Lett. 2018 Mar;15(3):3068-3074. doi: 10.3892/ol.2017.7717. Epub 2017 Dec 29.

PubMed [citation]

PMID:: 29435039
PMCID:: PMC5778890

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV001182958.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

The p.Q1295* pathogenic mutation (also known as c.3883C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 3883. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This mutation has been reported in Chinese hereditary breast/ovarian cancer cohorts (Sun J et al. Clin. Cancer Res. 2017 Oct;23:6113-6119; Fang M et al. Oncol. Lett. 2018 Mar;15:3068-3074; Wang YA et al. BMC Cancer 2018 03;18:315; Li JY et al. Int. J. Cancer 2019 Jan;144:281-289). 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: Oct 20, 2024

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