NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 14, 2015
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:: RCV000159957.3

Allele description

NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)

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.1714G>T (p.Glu572Ter)

Other names:

p.E572*:GAA>TAA

HGVS:

NC_000017.11:g.43093817C>A
NG_005905.2:g.124167G>T
NM_007294.4:c.1714G>TMANE SELECT
NM_007297.4:c.1573G>T
NM_007299.4:c.787+927G>T
NM_007300.4:c.1714G>T
NP_009225.1:p.Glu572Ter
NP_009225.1:p.Glu572Ter
NP_009228.2:p.Glu525Ter
NP_009231.2:p.Glu572Ter
LRG_292t1:c.1714G>T
LRG_292:g.124167G>T
LRG_292p1:p.Glu572Ter
NC_000017.10:g.41245834C>A
NM_007294.3:c.1714G>T
NM_007298.3:c.787+927G>T
NR_027676.2:n.1891G>T

Protein change:

E525*

Links:

dbSNP: rs730881473

NCBI 1000 Genomes Browser:

rs730881473

Molecular consequence:

NM_007299.4:c.787+927G>T - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.1891G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_007294.4:c.1714G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.1573G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.1714G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210109	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 14, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210109

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 14, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000210109.13

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

Description

This pathogenic variant is denoted BRCA1 c.1714G>T at the cDNA level and p.Glu572Ter (E572X) at the protein level. The substitution creates a nonsense variant, changing a Glutamic Acid to a premature stop codon (GAA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as BRCA1 1833G>T using alternate nomenclature, has been reported in two French families with breast cancer (Lecarpentier 2012). Based on current information, we consider this variant to be pathogenic.

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

Last Updated: Jun 18, 2022

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