U.S. flag

An official website of the United States government

NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val) AND Breast-ovarian cancer, familial 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112603.1

Allele description

NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val)
Other names:
p.G1763V:GGG>GTG
HGVS:
  • NC_000017.11:g.43051107C>A
  • NG_005905.2:g.166877G>T
  • NM_007294.3:c.5288G>T
  • NM_007297.4:c.5147G>T
  • NM_007298.3:c.1976G>T
  • NM_007299.4:c.1976G>T
  • NM_007300.4:c.5351G>T
  • NP_009225.1:p.Gly1763Val
  • NP_009228.2:p.Gly1716Val
  • NP_009229.2:p.Gly659Val
  • NP_009230.2:p.Gly659Val
  • NP_009231.2:p.Gly1784Val
  • LRG_292t1:c.5288G>T
  • LRG_292t1:c.5288G>T
  • LRG_292:g.166877G>T
  • LRG_292p1:p.Gly1763Val
  • NC_000017.10:g.41203124C>A
  • NR_027676.1:n.5424G>T
  • U14680.1:n.5407G>T
Protein change:
G1716V
Links:
dbSNP: rs80357007
NCBI 1000 Genomes Browser:
rs80357007
Molecular consequence:
  • NM_007294.3:c.5288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5147G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.1976G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1976G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5351G>T - missense variant - [Sequence Ontology: SO:0001583]
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:
MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145440Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Nov 25, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145440.1

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

Last Updated: Apr 15, 2020