NM_007294.4(BRCA1):c.2350_2351del (p.Ser784fs) 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:: Oct 18, 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:: RCV000257645.2

Allele description

NM_007294.4(BRCA1):c.2350_2351del (p.Ser784fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2350_2351del (p.Ser784fs)

Other names:

2469delTC-ter788

HGVS:

NC_000017.11:g.43093180GA[1]
NG_005905.2:g.124801TC[1]
NM_007294.4:c.2350_2351delMANE SELECT
NM_007297.4:c.2209_2210del
NM_007298.3:c.787+1563_787+1564del
NM_007299.4:c.787+1563_787+1564del
NM_007300.4:c.2350_2351del
NP_009225.1:p.Ser784fs
NP_009228.2:p.Ser737fs
NP_009231.2:p.Ser784fs
LRG_292:g.124801TC[1]
NC_000017.10:g.41245197GA[1]
NM_007294.3:c.2350_2351delTC
NM_007294.4:c.2350_2351delTCMANE SELECT
NR_027676.2:n.2525TC[1]
p.Ser784fs

Protein change:

S737fs

Links:

dbSNP: rs397508960

NCBI 1000 Genomes Browser:

rs397508960

Molecular consequence:

NM_007294.4:c.2350_2351del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2209_2210del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2350_2351del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.787+1563_787+1564del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1563_787+1564del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.2525TC[1] - 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
SCV000323442	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Oct 18, 2016)	germline	curation	Citation Link,
SCV000325330	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

SCV000323442

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

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Oct 18, 2016)

germline

curation

Citation Link,

SCV000325330

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	3	not provided	not provided	not provided	clinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323442.1

#	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, SCV000325330.3

#	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	3	not provided

Last Updated: Sep 23, 2021

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