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NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000515235.1

Allele description

NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)

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.4327C>T (p.Arg1443Ter)
Other names:
p.R1443X:CGA>TGA; NP_009225.1:p.Arg1443Ter
HGVS:
  • NC_000017.11:g.43082434G>A
  • NG_005905.2:g.135550C>T
  • NM_007294.4:c.4327C>TMANE SELECT
  • NM_007297.4:c.4186C>T
  • NM_007299.4:c.1018C>T
  • NM_007300.4:c.4327C>T
  • NP_009225.1:p.Arg1443Ter
  • NP_009225.1:p.Arg1443Ter
  • NP_009228.2:p.Arg1396Ter
  • NP_009229.2:p.Arg340Ter
  • NP_009230.2:p.Arg340Ter
  • NP_009231.2:p.Arg1443Ter
  • LRG_292t1:c.4327C>T
  • LRG_292:g.135550C>T
  • LRG_292p1:p.Arg1443Ter
  • NC_000017.10:g.41234451G>A
  • NM_007294.3:c.4327C>T
  • NM_007298.3:c.1018C>T
  • NM_007299.3:c.1018C>T
  • NM_007300.3:c.4327C>T
  • NR_027676.2:n.4504C>T
  • U14680.1:n.4446C>T
  • p.Arg1443*
  • p.Arg1443X
  • p.Arg340*
  • p.R1443*
Nucleotide change:
4446C>T
Protein change:
R1396*; ARG1443TER
Links:
OMIM: 113705.0016; dbSNP: rs41293455
NCBI 1000 Genomes Browser:
rs41293455
Molecular consequence:
  • NR_027676.2:n.4504C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.4:c.4327C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.4186C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.1018C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4327C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Breast-ovarian cancer, familial, susceptibility to, 1
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370
Name:
Pancreatic cancer, susceptibility to, 4
Synonyms:
Pancreatic cancer 4
Identifiers:
MONDO: MONDO:0013685; MedGen: C3280442; Orphanet: 1333; OMIM: 614320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611253Fulgent Genetics,Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000611253.1

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

Last Updated: Jun 18, 2022