NM_007294.3(BRCA1):c.2709T>A (p.Cys903Ter) AND Breast-ovarian cancer, familial 1

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 12, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000585837.2

Allele description

NM_007294.3(BRCA1):c.2709T>A (p.Cys903Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.2709T>A (p.Cys903Ter)

HGVS:

NC_000017.11:g.43092822A>T
NG_005905.2:g.125162T>A
NM_007294.3:c.2709T>A
NM_007298.3:c.788-1790T>A
NP_009225.1:p.Cys903Ter
LRG_292t1:c.2709T>A
LRG_292:g.125162T>A
LRG_292p1:p.Cys903Ter
NC_000017.10:g.41244839A>T

Protein change:

C903*; CYS903TER

Links:

OMIM: 113705.0042; dbSNP: rs1555589094

NCBI 1000 Genomes Browser:

rs1555589094

Molecular consequence:

NM_007298.3:c.788-1790T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.3:c.2709T>A - nonsense - [Sequence Ontology: SO:0001587]

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:: MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000693744	OMIM	no assertion criteria provided	Pathogenic (Mar 12, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000693744

OMIM

no assertion criteria provided

Pathogenic
(Mar 12, 2018)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL.

Eur J Med Genet. 2018 Mar;61(3):130-133. doi: 10.1016/j.ejmg.2017.11.003. Epub 2017 Nov 10. Review.

PubMed [citation]

PMID:: 29133208

Details of each submission

From OMIM, SCV000693744.2

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

Description

In a 2.5-year-old girl, born of consanguineous Brazilian parents, with Fanconi anemia complementation group S (FANCS; 617883), Freire et al. (2018) identified a homozygous c.2909T-A transversion (c.2709T-A, NM_007294.3) in exon 10 of the BRCA1 gene, resulting in a cys903-to-ter (C903X) substitution, predicted to result in a complete loss of protein function. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in her parents. The variant was not found in the 1000 Genomes Project or gnomAD databases. Patient cells showed increased chromosomal breakage compared to controls. The patient's mother was subsequently screened and found to have breast cancer (BROVCA1; 604370). There was additional family history of breast cancer on the maternal side.

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

Last Updated: Dec 24, 2018

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