NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Sep 28, 2018
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:: RCV000131647.18

Allele description [Variation Report for NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)]

NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)

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.8723T>G (p.Val2908Gly)

Other names:

V2980G; p.V2908G:GTG>GGG

HGVS:

NC_000013.11:g.32376760T>G
NG_012772.3:g.66281T>G
NM_000059.4:c.8723T>GMANE SELECT
NP_000050.2:p.Val2908Gly
NP_000050.3:p.Val2908Gly
LRG_293t1:c.8723T>G
LRG_293:g.66281T>G
LRG_293p1:p.Val2908Gly
NC_000013.10:g.32950897T>G
NM_000059.3:c.8723T>G
U43746.1:n.8951T>G
p.V2908G

Nucleotide change:

8951T>G

Protein change:

V2908G

Links:

dbSNP: rs28897753

NCBI 1000 Genomes Browser:

rs28897753

Molecular consequence:

NM_000059.4:c.8723T>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

Recent activity

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S41 family peptidase [Hoylesella buccalis]
S41 family peptidase [Hoylesella buccalis]
gi|2127574456|gnl|PRJNA231221|LK429 5|gb|UEA64255.1|

Protein
Gloeocapsopsis dulcis strain AAB1 chromosome, complete genome
Gloeocapsopsis dulcis strain AAB1 chromosome, complete genome
gi|2583116464|gb|CP119968.1|

Nucleotide
AVT71_gp37 [Bacillus phage 250]
AVT71_gp37 [Bacillus phage 250]
Gene ID:26645774

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186674	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Sep 28, 2018)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 15695382, 17924331, 18451181, 18951461, 21203900, 23108138, 29394989 Citation Link,
SCV000679727	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 12, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000683994	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 2, 2016)	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

SCV000186674

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Sep 28, 2018)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV000679727

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 12, 2017)

germline

clinical testing

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

SCV000683994

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(May 2, 2016)

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

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ.

Cancer Res. 2005 Jan 15;65(2):417-26.

PubMed [citation]

PMID:: 15695382

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17924331
PMCID:: PMC2265654

See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000186674.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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 Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV000679727.1

#	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 Color Diagnostics, LLC DBA Color Health, SCV000683994.2

#	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: Oct 13, 2024

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