NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) AND Breast-ovarian cancer, familial 1

Clinical significance:Uncertain significance (Last evaluated: May 2, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000112199.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)]

NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)

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.3845A>T (p.Glu1282Val)
Other names:
p.E1282V:GAA>GTA
HGVS:
  • NC_000017.11:g.43091686T>A
  • NG_005905.2:g.126298A>T
  • NM_007294.3:c.3845A>T
  • NM_007294.4:c.3845A>TMANE SELECT
  • NM_007297.4:c.3704A>T
  • NM_007298.3:c.788-654A>T
  • NM_007299.4:c.788-654A>T
  • NM_007300.4:c.3845A>T
  • NP_009225.1:p.Glu1282Val
  • NP_009225.1:p.Glu1282Val
  • NP_009228.2:p.Glu1235Val
  • NP_009231.2:p.Glu1282Val
  • LRG_292t1:c.3845A>T
  • LRG_292:g.126298A>T
  • LRG_292p1:p.Glu1282Val
  • NC_000017.10:g.41243703T>A
  • NR_027676.2:n.4022A>T
  • P38398:p.Glu1282Val
  • U14680.1:n.3964A>T
  • p.E1282V
Nucleotide change:
3964A>T
Protein change:
E1235V
Links:
UniProtKB: P38398#VAR_070483; dbSNP: rs80357217
NCBI 1000 Genomes Browser:
rs80357217
Molecular consequence:
  • NM_007298.3:c.788-654A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-654A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.3845A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3845A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3704A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3845A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4022A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

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
SCV000144896Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Dec 23, 2003)
germlineclinical testing

SCV000189340Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Mar 16, 2012)
germlineclinical testing

SCV000296462Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(May 2, 2016)
germlineclinical testing

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

SCV000488120Counsylcriteria provided, single submitter
Uncertain significance
(Jan 7, 2016)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided2not providednot provided2not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.

PubMed [citation]
PMID:
26295337
PMCID:
PMC4546651
See all PubMed Citations (7)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European1not 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), SCV000189340.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot provided See 1

Co-occurrences

#ZygosityAllelesNumber of Observations
1SingleHeterozygoteBRCA1:5107T>A (M1663K)1

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296462.1

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

From Counsyl, SCV000488120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 23, 2021

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