NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) AND Breast-ovarian cancer, familial 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Mar 15, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000031024.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)]

NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)

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.2060A>C (p.Gln687Pro)
HGVS:
  • NC_000017.11:g.43093471T>G
  • NG_005905.2:g.124513A>C
  • NM_007294.3:c.2060A>C
  • NM_007294.4:c.2060A>CMANE SELECT
  • NM_007297.4:c.1919A>C
  • NM_007298.3:c.787+1273A>C
  • NM_007299.4:c.787+1273A>C
  • NM_007300.4:c.2060A>C
  • NP_009225.1:p.Gln687Pro
  • NP_009225.1:p.Gln687Pro
  • NP_009228.2:p.Gln640Pro
  • NP_009231.2:p.Gln687Pro
  • LRG_292t1:c.2060A>C
  • LRG_292:g.124513A>C
  • LRG_292p1:p.Gln687Pro
  • NC_000017.10:g.41245488T>G
  • NR_027676.2:n.2237A>C
  • U14680.1:n.2179A>C
  • p.Q687P
Nucleotide change:
2179A>C
Protein change:
Q640P
Links:
dbSNP: rs28897680
NCBI 1000 Genomes Browser:
rs28897680
Molecular consequence:
  • NM_007298.3:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1273A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1919A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2060A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2237A>C - 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
SCV000053617Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Mar 15, 2010)
germlineclinical testing

SCV000144283Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(May 29, 2002)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053617.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144283.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2021

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