NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) AND Breast-ovarian cancer, familial 1

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

Germline classification:: Pathogenic (6 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:: RCV000031097.9

Allele description

NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)

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.3228_3229del (p.Gly1077fs)

Other names:

3347_3348delAG

HGVS:

NC_000017.10:g.41244319_41244320del
NC_000017.11:g.43092302CT[1]
NG_005905.2:g.125679AG[1]
NM_007294.4:c.3228_3229delMANE SELECT
NM_007297.4:c.3087_3088del
NM_007298.3:c.788-1271_788-1270del
NM_007299.4:c.788-1271_788-1270del
NM_007300.4:c.3228_3229del
NP_009225.1:p.Gly1077fs
NP_009228.2:p.Gly1030fs
NP_009231.2:p.Gly1077fs
LRG_292:g.125679AG[1]
NC_000017.10:g.41244319CT[1]
NC_000017.10:g.41244319_41244320del
NC_000017.10:g.41244319_41244320delCT
NM_007294.3:c.3228_3229delAG
NM_007294.4:c.3228_3229del
NM_007294.4:c.3228_3229delAGMANE SELECT
NR_027676.2:n.3403AG[1]
U14680.1:n.3347_3348delAG
p.G1076AfsX8
p.G1077Afs*8
p.Gly1077Alafs*8

Nucleotide change:

3347delAG

Protein change:

G1030fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3347&base_change=del AG; dbSNP: rs80357635

NCBI 1000 Genomes Browser:

rs80357635

Molecular consequence:

NM_007294.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.3:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.3403AG[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
SCV000053693	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Nov 30, 2012)	germline	clinical testing
SCV000144682	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000220429	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Jun 18, 2014)	unknown	literature only	PubMed (8) [See all records that cite these PMIDs] 18821011, 15477862, 14522380, 17591843, 17574839, 18819001, 22798144, 10660329 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000282299	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,
SCV000325582	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,
SCV000564392	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 17, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	57	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	231	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	6	not provided	not provided	6	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
Caucasian	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L, Putignano AL, Congregati C, Zanna I, Sera F, Morrone D, Falchetti M, Turco MR, Ottini L, Palli D, Genuardi M.

Breast Cancer Res Treat. 2009 Oct;117(3):497-504. doi: 10.1007/s10549-008-0190-3. Epub 2008 Sep 27.

PubMed [citation]

PMID:: 18821011

BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case-control study.

Bjørge T, Lie AK, Hovig E, Gislefoss RE, Hansen S, Jellum E, Langseth H, Nustad K, Tropé CG, Dørum A.

Br J Cancer. 2004 Nov 15;91(10):1829-34.

PubMed [citation]

PMID:: 15477862
PMCID:: PMC2410048

See all PubMed Citations (9)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053693.6

#	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	not provided	6	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA1:IVS6+8T>C	1

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144682.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	not provided
2	not provided	8	not provided	not provided	clinical testing	not provided
3	not provided	2	not provided	not provided	clinical testing	not provided
4	Caucasian	1	not provided	not provided	clinical testing	not provided
5	Caucasian	2	not provided	not provided	clinical testing	not provided
6	Caucasian	3	not provided	not provided	clinical testing	not provided
7	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
8	Western European	3	not provided	not provided	clinical testing	not provided
9	Western Europeanan, Central/Eastern 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		7	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		8	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000220429.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (8)

#	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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282299.1

#	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, SCV000325582.3

#	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	57	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564392.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	214	not provided	not provided	clinical testing	PubMed (1)

#	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		214	not provided	not provided	not provided

Last Updated: Sep 26, 2021

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