NM_007294.4(BRCA1):c.3442del (p.Glu1148fs) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 26, 2019
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:: RCV000130808.3

Allele description

NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)

HGVS:

NC_000017.11:g.43092089del
NG_005905.2:g.125895del
NM_007294.4:c.3442del
NM_007297.4:c.3301del
NM_007298.3:c.788-1057del
NM_007299.4:c.788-1057del
NM_007300.4:c.3442del
NP_009225.1:p.Glu1148fs
NP_009228.2:p.Glu1101fs
NP_009231.2:p.Glu1148fs
LRG_292:g.125895del
NC_000017.10:g.41244106del
NM_007294.3:c.3442delG
NR_027676.2:n.3619del
U14680.1:n.3561delG
p.E1148RFS*7

Nucleotide change:

3561delG

Protein change:

E1101fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3561&base_change=del G; dbSNP: rs80357808

NCBI 1000 Genomes Browser:

rs80357808

Molecular consequence:

NM_007294.4:c.3442del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3301del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3442del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.788-1057del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1057del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.3619del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MONDO: MONDO:0015356; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000185704	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Pathogenic (Aug 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000185704

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Pathogenic
(Aug 26, 2019)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000185704.5

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

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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

Last Updated: Jun 13, 2020

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