NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000082915.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)]

NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)

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.3551G>C (p.Gly1184Ala)

HGVS:

NC_000013.11:g.32337906G>C
NG_012772.3:g.27427G>C
NM_000059.4:c.3551G>CMANE SELECT
NP_000050.2:p.Gly1184Ala
NP_000050.3:p.Gly1184Ala
LRG_293t1:c.3551G>C
LRG_293:g.27427G>C
LRG_293p1:p.Gly1184Ala
NC_000013.10:g.32912043G>C
NM_000059.3:c.3551G>C
p.G1184A

Nucleotide change:

3779G>C

Protein change:

G1184A

Links:

dbSNP: rs431825309

NCBI 1000 Genomes Browser:

rs431825309

Molecular consequence:

NM_000059.4:c.3551G>C - 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
SCV000114989	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Mar 9, 2011)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114989

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Uncertain significance
(Mar 9, 2011)

germline

clinical testing

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

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000114989.2

#	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

Last Updated: Sep 29, 2024

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