NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 10, 2017
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:: RCV000113900.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)]

NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)

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.623T>G (p.Val208Gly)

HGVS:

NC_000013.11:g.32326605T>G
NG_012772.3:g.16126T>G
NM_000059.4:c.623T>GMANE SELECT
NP_000050.2:p.Val208Gly
NP_000050.3:p.Val208Gly
LRG_293t1:c.623T>G
LRG_293:g.16126T>G
LRG_293p1:p.Val208Gly
NC_000013.10:g.32900742T>G
NM_000059.3:c.623T>G
U43746.1:n.851T>G
p.V208G

Protein change:

V208G

Links:

dbSNP: rs80358865

NCBI 1000 Genomes Browser:

rs80358865

Molecular consequence:

NM_000059.4:c.623T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000147315	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (Dec 23, 2003)	germline	clinical testing
SCV000785087	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Apr 10, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24249303, 27124784, 23983145 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000147315

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Uncertain significance
(Dec 23, 2003)

germline

clinical testing

SCV000785087

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Apr 10, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, Murakami Y, Aoki D, Iwase T, Nishimura S, Yamauchi H, Ohsumi S, Baba S, Shimizu T.

Breast Cancer. 2015 Sep;22(5):462-8. doi: 10.1007/s12282-013-0503-1. Epub 2013 Nov 19.

PubMed [citation]

PMID:: 24249303

Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.

Park KS, Cho EY, Nam SJ, Ki CS, Kim JW.

Genet Med. 2016 Dec;18(12):1250-1257. doi: 10.1038/gim.2016.39. Epub 2016 Apr 28.

PubMed [citation]

PMID:: 27124784

See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147315.1

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

From Counsyl, SCV000785087.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Jul 15, 2024

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