NM_007294.4(BRCA1):c.2910del (p.Lys970fs) AND Breast-ovarian cancer, familial 1

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000111961.2

Allele description

NM_007294.4(BRCA1):c.2910del (p.Lys970fs)

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.2910del (p.Lys970fs)

Other names:

3029delA

HGVS:

NC_000017.11:g.43092623del
NG_005905.2:g.125363del
NM_007294.4:c.2910delMANE SELECT
NM_007297.4:c.2769del
NM_007298.3:c.788-1589del
NM_007299.4:c.788-1589del
NM_007300.4:c.2910del
NP_009225.1:p.Lys970fs
NP_009228.2:p.Lys923fs
NP_009231.2:p.Lys970fs
LRG_292:g.125363del
NC_000017.10:g.41244640del
NM_007294.3:c.2910delA
NM_007294.4:c.2910delAMANE SELECT
NR_027676.2:n.3087del
U14680.1:n.3029delA

Protein change:

K923fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3029&base_change=del A; dbSNP: rs80357893

NCBI 1000 Genomes Browser:

rs80357893

Molecular consequence:

NM_007294.4:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.788-1589del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1589del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.3087del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144577	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Dec 30, 1999)	germline	clinical testing
SCV000299851	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144577

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(Dec 30, 1999)

germline

clinical testing

SCV000299851

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015)

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	curation
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144577.1

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299851.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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: Sep 23, 2021

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