NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Nov 3, 2014
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:: RCV000077449.17

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]

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

Recent activity

Clear Turn Off Turn On

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109247	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Likely benign (Oct 23, 2008)	germline	clinical testing
SCV000147444	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000196017	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 3, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000220798	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Oct 15, 2014)	unknown	literature only	PubMed (7) [See all records that cite these PMIDs] 17924331, 18284688, 18451181, 15695382, 19043619, 19949876, 23108138 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
Western European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
Western European, Central/Eastern European	germline	yes	1	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

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 Sharing Clinical Reports Project (SCRP), SCV000109247.2

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147444.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	Western European	3	not provided	not provided	clinical testing	not provided
4	Western European, Central/Eastern European	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		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000196017.1

#	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	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000220798.2

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

#	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 13, 2024

ClinVar

Relating variation to medicine