NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) AND Breast-ovarian cancer, familial 1

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

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:
RCV000112396.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)]

NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)

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.4766G>A (p.Arg1589His)
HGVS:
  • NC_000017.11:g.43071148C>T
  • NG_005905.2:g.146836G>A
  • NM_007294.3:c.4766G>A
  • NM_007294.4:c.4766G>AMANE SELECT
  • NM_007297.4:c.4625G>A
  • NM_007298.3:c.1454G>A
  • NM_007299.4:c.1454G>A
  • NM_007300.4:c.4829G>A
  • NP_009225.1:p.Arg1589His
  • NP_009225.1:p.Arg1589His
  • NP_009228.2:p.Arg1542His
  • NP_009229.2:p.Arg485His
  • NP_009230.2:p.Arg485His
  • NP_009231.2:p.Arg1610His
  • LRG_292t1:c.4766G>A
  • LRG_292:g.146836G>A
  • LRG_292p1:p.Arg1589His
  • NC_000017.10:g.41223165C>T
  • NR_027676.2:n.4943G>A
  • U14680.1:n.4885G>A
  • p.R1589H
Protein change:
R1542H
Links:
dbSNP: rs80357341
NCBI 1000 Genomes Browser:
rs80357341
Molecular consequence:
  • NM_007294.3:c.4766G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4766G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.1454G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1454G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4943G>A - 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
SCV000145177Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Apr 10, 2007)
germlineclinical testing

SCV000220786Counsylcriteria provided, single submitter
Likely benign
(Oct 13, 2014)
unknownliterature only

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

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001140509Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing, literature only
not providedgermlineyes3not providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C.

Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7.

PubMed [citation]
PMID:
21735045

Non-founder BRCA1 mutations in Russian breast cancer patients.

Iyevleva AG, Suspitsin EN, Kroeze K, Gorodnova TV, Sokolenko AP, Buslov KG, Voskresenskiy DA, Togo AV, Kovalenko SP, Stoep Nv, Devilee P, Imyanitov EN.

Cancer Lett. 2010 Dec 8;298(2):258-63. doi: 10.1016/j.canlet.2010.07.013. Epub 2010 Aug 19.

PubMed [citation]
PMID:
20727672
See all PubMed Citations (4)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000220786.1

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

From Mendelics, SCV001140509.1

#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: Nov 27, 2021

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