NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Sep 24, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000162771.4

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:
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
SCV000213248Ambry Geneticscriteria provided, single submitter
Likely benign
(Sep 24, 2018)
germlineclinical testing

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

Citation Link,

SCV000911508Color Health, Inccriteria provided, single submitter
Likely benign
(Feb 7, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]
PMID:
23867111

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, SCV000213248.4

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

Description

Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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

From Color Health, Inc, SCV000911508.1

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

Last Updated: May 23, 2021

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