NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) AND Breast-ovarian cancer, familial 1

Clinical significance:Uncertain significance (Last evaluated: Dec 22, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000083031.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)]

NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)

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.2910A>C (p.Lys970Asn)
Other names:
p.K970N:AAA>AAC
HGVS:
  • NC_000017.11:g.43092621T>G
  • NG_005905.2:g.125363A>C
  • NM_007294.3:c.2910A>C
  • NM_007294.4:c.2910A>CMANE SELECT
  • NM_007297.4:c.2769A>C
  • NM_007298.3:c.788-1589A>C
  • NM_007299.4:c.788-1589A>C
  • NM_007300.4:c.2910A>C
  • NP_009225.1:p.Lys970Asn
  • NP_009225.1:p.Lys970Asn
  • NP_009228.2:p.Lys923Asn
  • NP_009231.2:p.Lys970Asn
  • LRG_292t1:c.2910A>C
  • LRG_292:g.125363A>C
  • LRG_292p1:p.Lys970Asn
  • NC_000017.10:g.41244638T>G
  • NR_027676.2:n.3087A>C
  • p.K970N
Nucleotide change:
3029A>C
Protein change:
K923N
Links:
dbSNP: rs431825394
NCBI 1000 Genomes Browser:
rs431825394
Molecular consequence:
  • NM_007298.3:c.788-1589A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1589A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.2910A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2910A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2769A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2910A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.3087A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000115105Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Jan 25, 2012)

History

germlineclinical testing

SCV000488070Counsylcriteria provided, single submitter
Uncertain significance
(Dec 22, 2015)
unknownclinical testing

PubMed (3)
[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 providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Reconfiguring phosphorylation signaling by genetic polymorphisms affects cancer susceptibility.

Wang Y, Cheng H, Pan Z, Ren J, Liu Z, Xue Y.

J Mol Cell Biol. 2015 Jun;7(3):187-202. doi: 10.1093/jmcb/mjv013. Epub 2015 Feb 26.

PubMed [citation]
PMID:
25722345

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG, Ng CK, De Filippo MR, Zhang Y, Piscuoglio S, Lim RS, Shen R, Norton L, Reis-Filho JS, Weigelt B.

Genome Biol. 2014 Oct 28;15(10):484. doi: 10.1186/s13059-014-0484-1.

PubMed [citation]
PMID:
25348012
PMCID:
PMC4232638
See all PubMed Citations (3)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115105.3

#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, SCV000488070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 6, 2021

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