NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Feb 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000113608.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu)]

NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu)
Other names:
p.Q2184E:CAG>GAG
HGVS:
  • NC_000013.11:g.32340905C>G
  • NG_012772.3:g.30426C>G
  • NM_000059.3:c.6550C>G
  • NP_000050.2:p.Gln2184Glu
  • LRG_293t1:c.6550C>G
  • LRG_293:g.30426C>G
  • LRG_293p1:p.Gln2184Glu
  • NC_000013.10:g.32915042C>G
  • U43746.1:n.6778C>G
  • p.Q2184E
Nucleotide change:
6778C>G
Protein change:
Q2184E
Links:
dbSNP: rs80358887
NCBI 1000 Genomes Browser:
rs80358887
Molecular consequence:
  • NM_000059.3:c.6550C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000146882Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(May 29, 2002)
germlineclinical testing

SCV000297544Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Mar 11, 2010)

History

germlineclinical testing

SCV000488122Counsylcriteria provided, single submitter
Uncertain significance
(Feb 19, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Ashkenazi1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297544.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Counsyl, SCV000488122.1

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

Last Updated: Jun 14, 2021

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