NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs) AND Breast-ovarian cancer, familial 1

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

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 22, 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:: RCV000112329.2

Allele description

NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs)

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.4373_4389del (p.Gln1458fs)

Other names:

4491del17; 4491_4507del17

HGVS:

NC_000017.11:g.43076585_43076601del
NG_005905.2:g.141385_141401del
NM_007294.4:c.4373_4389delMANE SELECT
NM_007297.4:c.4232_4248del
NM_007298.3:c.1061_1077del
NM_007299.4:c.1061_1077del
NM_007300.4:c.4436_4452del
NP_009225.1:p.Gln1458fs
NP_009228.2:p.Gln1411fs
NP_009229.2:p.Gln354fs
NP_009230.2:p.Gln354fs
NP_009231.2:p.Gln1479fs
LRG_292:g.141385_141401del
NC_000017.10:g.41228602_41228618del
NM_007294.3:c.4373_4389del17
NM_007294.3:c.4373_4389delAGAAAAGTAGTGAATAC
NM_007294.4:c.4373_4389delAGAAAAGTAGTGAATACMANE SELECT
NR_027676.2:n.4550_4566del
U14680.1:n.4491_4507del17

Protein change:

Q1411fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4491&base_change=del 17; dbSNP: rs80359885

NCBI 1000 Genomes Browser:

rs80359885

Molecular consequence:

NM_007294.4:c.4373_4389del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.4232_4248del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.1061_1077del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.1061_1077del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4436_4452del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4550_4566del - 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
SCV000145078	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000282328	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325942	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000145078

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(May 29, 2002)

germline

clinical testing

SCV000282328

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

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Apr 22, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000325942

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)

Pathogenic
(Oct 2, 2015)

germline

clinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

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

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145078.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	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), SCV000282328.1

#	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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325942.3

#	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	1	not provided

Last Updated: Sep 23, 2021

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