NM_000059.4(BRCA2):c.793+1G>C AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 11, 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:: RCV000573440.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.793+1G>C]

NM_000059.4(BRCA2):c.793+1G>C

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.793+1G>C

HGVS:

NC_000013.11:g.32331031G>C
NG_012772.3:g.20552G>C
NM_000059.4:c.793+1G>CMANE SELECT
NM_001406719.1:c.793+1G>C
NM_001406720.1:c.793+1G>C
NM_001406721.1:c.793+1G>C
NM_001406722.1:c.424+1G>C
LRG_293t1:c.793+1G>C
LRG_293:g.20552G>C
NC_000013.10:g.32905168G>C
NM_000059.3:c.793+1G>C

Links:

dbSNP: rs81002846

NCBI 1000 Genomes Browser:

rs81002846

Molecular consequence:

NM_000059.4:c.793+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406719.1:c.793+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406720.1:c.793+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406721.1:c.793+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406722.1:c.424+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000661408	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Jan 11, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000661408

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Jan 11, 2022)

germline

clinical testing

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

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

Clinical and genetic characterization of hereditary breast cancer in a Chinese population.

Jian W, Shao K, Qin Q, Wang X, Song S, Wang X.

Hered Cancer Clin Pract. 2017;15:19. doi: 10.1186/s13053-017-0079-4.

PubMed [citation]

PMID:: 29093764
PMCID:: PMC5663067

Details of each submission

From Ambry Genetics, SCV000661408.5

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

Description

The c.793+1G>C intronic variant results from a G to C substitution one nucleotide after coding exon 8 of the BRCA2 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. This alteration has been reported in the literature in individuals affected with breast cancer (Jian W et al. Hered Cancer Clin Pract, 2017 Oct;15:19). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site, however, direct evidence is insufficient at this time (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be 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: Jun 29, 2024

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