NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 21, 2020
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:: RCV001811354.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)]

NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)

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.3010A>G (p.Ser1004Gly)

HGVS:

NC_000013.11:g.32337365A>G
NG_012772.3:g.26886A>G
NM_000059.4:c.3010A>GMANE SELECT
NP_000050.2:p.Ser1004Gly
NP_000050.3:p.Ser1004Gly
LRG_293t1:c.3010A>G
LRG_293:g.26886A>G
LRG_293p1:p.Ser1004Gly
NC_000013.10:g.32911502A>G
NM_000059.3:c.3010A>G

Nucleotide change:

3238A>G

Protein change:

S1004G

Links:

dbSNP: rs398122759

NCBI 1000 Genomes Browser:

rs398122759

Molecular consequence:

NM_000059.4:c.3010A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001473283	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jan 21, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001473283

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jan 21, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473283.1

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

Description

The BRCA2 c.3010A>G; p.Ser1004Gly variant (rs398122759), is reported in the literature in at least one individual with breast cancer (Li 2017). This variant is reported in ClinVar (Variation ID: 91794), and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 1004 is weakly conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ser1004Gly variant is uncertain at this time. References: Li G et al. Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing. J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024.

#	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 10, 2024

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