NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) AND Breast and/or ovarian cancer

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 17, 2023
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:: RCV000735609.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)]

NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)

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.8149G>T (p.Ala2717Ser)

Other names:

p.A2717S:GCC>TCC; NP_000050.3:p.Ala2717Ser; NM_000059.4(BRCA2):c.8149G>T

HGVS:

NC_000013.11:g.32363351G>T
NG_012772.3:g.52872G>T
NM_000059.4:c.8149G>TMANE SELECT
NP_000050.2:p.Ala2717Ser
NP_000050.3:p.Ala2717Ser
LRG_293t1:c.8149G>T
LRG_293:g.52872G>T
LRG_293p1:p.Ala2717Ser
NC_000013.10:g.32937488G>T
NM_000059.3:c.8149G>T
NM_000059.4:c.8149G>T
U43746.1:n.8377G>T
p.A2717S

Nucleotide change:

8377G>T

Protein change:

A2717S

Links:

dbSNP: rs28897747

NCBI 1000 Genomes Browser:

rs28897747

Molecular consequence:

NM_000059.4:c.8149G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

Recent activity

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4-alpha-glucanotransferase, partial [Aeromicrobium sp. REDSEA-S32_B7]
4-alpha-glucanotransferase, partial [Aeromicrobium sp. REDSEA-S32_B7]
gi|2612312900|ref|WP_317698774.1|

Protein
Coturnix japonica isolate 7356 chromosome 20, whole genome shotgun sequence
Coturnix japonica isolate 7356 chromosome 20, whole genome shotgun sequence
gi|1002167120|gnl|WGS:LSZS|chr20|gb 3800.1|

Nucleotide
dusp13 [Salarias fasciatus]
dusp13 [Salarias fasciatus]
Gene ID:115393787

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000219404	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000863747	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Uncertain significance (Feb 15, 2001)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000219404

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 17, 2023)

germline

clinical testing

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

SCV000863747

Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Uncertain significance
(Feb 15, 2001)

germline

clinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000219404.6

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

#	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

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863747.1

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

#	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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