NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Aug 26, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000163185.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)]

NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)

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.9087G>A (p.Ala3029=)
Other names:
p.A3029A:GCG>GCA
HGVS:
  • NC_000013.11:g.32379883G>A
  • NG_012772.3:g.69404G>A
  • NM_000059.3:c.9087G>A
  • NM_000059.4:c.9087G>AMANE SELECT
  • NP_000050.2:p.Ala3029=
  • NP_000050.3:p.Ala3029=
  • LRG_293t1:c.9087G>A
  • LRG_293:g.69404G>A
  • LRG_293p1:p.Ala3029=
  • NC_000013.10:g.32954020G>A
  • p.A3029A
Links:
dbSNP: rs368576266
NCBI 1000 Genomes Browser:
rs368576266
Molecular consequence:
  • NM_000059.3:c.9087G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000059.4:c.9087G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000213706Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 18, 2014)
germlineclinical testing

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

Citation Link,

SCV000689173Color Health, Inccriteria provided, single submitter
Likely benign
(Aug 26, 2017)
germlineclinical testing

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

SCV000805248True Health Diagnosticsno assertion criteria providedLikely benign
(Mar 15, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia.

Cvok ML, Cretnik M, Musani V, Ozretic P, Levanat S.

Clin Chem Lab Med. 2008;46(10):1376-83. doi: 10.1515/CCLM.2008.307.

PubMed [citation]
PMID:
18844490

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

Details of each submission

From Ambry Genetics, SCV000213706.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This alteration is classified as likely benign based on a combination of the following: 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000689173.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From True Health Diagnostics, SCV000805248.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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