NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) AND Breast-ovarian cancer, familial 1

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

Germline classification:: Pathogenic (5 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:: RCV000112262.4

Allele description

NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)

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.4113del (p.Cys1372fs)

Other names:

4232delG

HGVS:

NC_000017.11:g.43091018del
NG_005905.2:g.126968del
NM_007294.4:c.4113delMANE SELECT
NM_007297.4:c.3972del
NM_007298.3:c.804del
NM_007299.4:c.804del
NM_007300.4:c.4113del
NP_009225.1:p.Cys1372fs
NP_009228.2:p.Cys1325fs
NP_009229.2:p.Cys269fs
NP_009230.2:p.Cys269fs
NP_009231.2:p.Cys1372fs
LRG_292:g.126968del
NC_000017.10:g.41243033del
NC_000017.10:g.41243035del
NM_007294.3:c.4113delG
NR_027676.2:n.4290del
U14680.1:n.4232delG

Protein change:

C1325fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4232&base_change=del G; dbSNP: rs80357861

NCBI 1000 Genomes Browser:

rs80357861

Molecular consequence:

NM_007294.4:c.4113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3972del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.804del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.804del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4113del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4290del - 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
SCV000144984	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000212001	Division of Human Genetics,Medical University Innsbruck - BRCA-Tyrol	no assertion criteria provided (clinical testing)	Pathogenic (Feb 11, 2015)	germline	clinical testing
SCV000282323	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,
SCV000325852	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,
SCV000677651	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Nov 28, 2016)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 26014432, 16267036, 20206335, 10464631 Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	3	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

Pölsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, Morscher RJ, Weber I, Fauth C, Wernstedt A, Sperner-Unterweger B, Oberguggenberger A, Hubalek M, Marth C, Zschocke J.

Eur J Hum Genet. 2016 Feb;24(2):258-62. doi: 10.1038/ejhg.2015.108. Epub 2015 May 27.

PubMed [citation]

PMID:: 26014432
PMCID:: PMC4717197

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

See all PubMed Citations (4)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144984.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Western 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
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Division of Human Genetics,Medical University Innsbruck - BRCA-Tyrol, SCV000212001.1

#	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), SCV000282323.1

#	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, SCV000325852.3

#	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

From Counsyl, SCV000677651.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Aug 27, 2021

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