NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 3, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000166634.10

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]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000217438	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Aug 3, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24249303, 29176636, 30287823, 33875706 Citation Link,
SCV000906878	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000217438

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Aug 3, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000906878

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Nov 3, 2022)

germline

clinical testing

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

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

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

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S.

J Hum Genet. 2018 Apr;63(4):447-457. doi: 10.1038/s10038-017-0355-1. Epub 2017 Nov 8. Erratum in: J Hum Genet. 2018 Apr;63(4):541-542. doi: 10.1038/s10038-017-0395-6.

PubMed [citation]

PMID:: 29176636
PMCID:: PMC8716335

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000217438.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000906878.4

#	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

Last Updated: Sep 29, 2024

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