NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) AND BRCA2-related disorder

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV002513644.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)]

NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)

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.3515C>G (p.Ser1172Trp)

HGVS:

NC_000013.11:g.32337870C>G
NG_012772.3:g.27391C>G
NM_000059.4:c.3515C>GMANE SELECT
NP_000050.2:p.Ser1172Trp
NP_000050.3:p.Ser1172Trp
LRG_293t1:c.3515C>G
LRG_293:g.27391C>G
LRG_293p1:p.Ser1172Trp
NC_000013.10:g.32912007C>G
NM_000059.3:c.3515C>G
U43746.1:n.3743C>G

Nucleotide change:

3743C>G

Protein change:

S1172W

Links:

dbSNP: rs80358600

NCBI 1000 Genomes Browser:

rs80358600

Molecular consequence:

NM_000059.4:c.3515C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: BRCA2-related disorder
Synonyms:: BRCA2-Related Disorders; BRCA2-related condition
Identifiers:: MedGen: CN239275

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003761498	GenomeConnect, ClinGen	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003761498

GenomeConnect, ClinGen

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV003761498.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant classified as Uncertain significance and reported on 05-14-2019 by Lab or GTR ID 505849. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Oct 20, 2024

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