NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) AND Breast-ovarian cancer, familial 1

Clinical significance:Benign (Last evaluated: Jun 18, 2019)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000111696.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)]

NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly)
HGVS:
  • NC_000017.11:g.43093697T>C
  • NG_005905.2:g.124287A>G
  • NM_007294.3:c.1834A>G
  • NM_007294.4:c.1834A>GMANE SELECT
  • NM_007297.4:c.1693A>G
  • NM_007298.3:c.787+1047A>G
  • NM_007299.4:c.787+1047A>G
  • NM_007300.4:c.1834A>G
  • NP_009225.1:p.Arg612Gly
  • NP_009225.1:p.Arg612Gly
  • NP_009228.2:p.Arg565Gly
  • NP_009231.2:p.Arg612Gly
  • LRG_292t1:c.1834A>G
  • LRG_292:g.124287A>G
  • LRG_292p1:p.Arg612Gly
  • NC_000017.10:g.41245714T>C
  • NR_027676.2:n.2011A>G
  • U14680.1:n.1953A>G
Protein change:
R565G
Links:
dbSNP: rs80357245
NCBI 1000 Genomes Browser:
rs80357245
Molecular consequence:
  • NM_007298.3:c.787+1047A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1047A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2011A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000144198Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(May 29, 2002)
germlineclinical testing

SCV000489573Counsylcriteria provided, single submitter
Uncertain significance
(Oct 27, 2016)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001161490Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Jun 18, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Native American, Indiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]
PMID:
26689913
PMCID:
PMC4703835
See all PubMed Citations (5)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
2Native American, Indian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000489573.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000492

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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