NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2014
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:: RCV000162878.1

Allele description

NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys)

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.4484G>A (p.Arg1495Lys)

HGVS:

NC_000017.11:g.43076488C>T
NG_005905.2:g.141496G>A
NM_007294.3:c.4484G>A
NP_009225.1:p.Arg1495Lys
LRG_292t1:c.4484G>A
LRG_292:g.141496G>A
LRG_292p1:p.Arg1495Lys
NC_000017.10:g.41228505C>T
NR_027676.1:n.4620G>A
U14680.1:n.4603G>A
p.R1495K

Nucleotide change:

4603G>A

Protein change:

R1495K

Links:

dbSNP: rs80357389

NCBI 1000 Genomes Browser:

rs80357389

Molecular consequence:

NM_007294.3:c.4484G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.1:n.4620G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000213365	Ambry Genetics,	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))	Pathogenic (Oct 1, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000213365

Ambry Genetics,

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))

Pathogenic
(Oct 1, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics,, SCV000213365.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 29, 2016

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