NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 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:: RCV002469227.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)]

NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)

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.3002C>G (p.Ser1001Ter)

HGVS:

NC_000013.11:g.32337357C>G
NG_012772.3:g.26878C>G
NM_000059.4:c.3002C>GMANE SELECT
NP_000050.2:p.Ser1001Ter
NP_000050.3:p.Ser1001Ter
LRG_293t1:c.3002C>G
LRG_293:g.26878C>G
LRG_293p1:p.Ser1001Ter
NC_000013.10:g.32911494C>G
NM_000059.3:c.3002C>G

Protein change:

S1001*

Links:

dbSNP: rs1555283001

NCBI 1000 Genomes Browser:

rs1555283001

Molecular consequence:

NM_000059.4:c.3002C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002765621	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 13, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002765621

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 13, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002765621.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with a personal history consistent with pathogenic variants in this gene (Couch 2015); Also known as 3230C>G; This variant is associated with the following publications: (PMID: 25452441)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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