U.S. flag

An official website of the United States government

  • delete

NM_007294.3(BRCA1):c.3980A>G (p.Gln1327Arg) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 5, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000159850.1

Allele description

NM_007294.3(BRCA1):c.3980A>G (p.Gln1327Arg)

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.3980A>G (p.Gln1327Arg)
Other names:
p.Q1327R:CAG>CGG
HGVS:
  • NC_000017.11:g.43091551T>C
  • NG_005905.2:g.126433A>G
  • NM_007294.3:c.3980A>G
  • NM_007298.3:c.788-519A>G
  • NP_009225.1:p.Gln1327Arg
  • LRG_292t1:c.3980A>G
  • LRG_292:g.126433A>G
  • LRG_292p1:p.Gln1327Arg
  • NC_000017.10:g.41243568T>C
  • NR_027676.1:n.4116A>G
Protein change:
Q1327R
Links:
dbSNP: rs730881444
NCBI 1000 Genomes Browser:
rs730881444
Molecular consequence:
  • NM_007298.3:c.788-519A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.1:n.4116A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
CHEK2-Related Breast Cancer
Identifiers:
MedGen: C0346153; OMIM: 114480

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
SCV000209894GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 5, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000209894.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant, in exon 10 of the BRCA1 gene, is denoted c.3980A>G at the cDNA level and p.Gln1327Arg (Q1327R) at the protein level. This amino acid substitution results in the semi-conservative replacement of an uncharged Glutamine residue (CAG) with a positively-charged Arginine residue (CGG) at a position that is moderately conserved throughout evolution. Gln1327Arg variant is not located within a known functional domain. In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Gln1327Arg variant has not been published in the literature as a mutation nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Server reports Gln1327Arg was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether Gln1327Arg is a pathogenic mutation or a rare benign variant.The variant is found in BRCA1-BRCA2 panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 22, 2017