NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 9, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003460507.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)]

NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)

Other names:

3972_3975delTGAG

HGVS:

NC_000013.10:g.32912234_32912237del
NC_000013.11:g.32338099_32338102del
NG_012772.3:g.27620_27623del
NM_000059.4:c.3744_3747delMANE SELECT
NP_000050.3:p.Ser1248fs
LRG_293:g.27620_27623del
NC_000013.10:g.32912234_32912237del
NC_000013.10:g.32912236_32912239del
NC_000013.10:g.32912236_32912239del
NC_000013.10:g.32912236_32912239delTGAG
NM_000059.3:c.3744_3747delTGAG
U43746.1:n.3972_3975delTGAG
p.S1248Rfs*10
p.Ser1248Argfs*10

Nucleotide change:

3972del4

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3972&base_change=del TGAG; dbSNP: rs80359403

NCBI 1000 Genomes Browser:

rs80359403

Molecular consequence:

NM_000059.4:c.3744_3747del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004213592	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 9, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004213592

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 9, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004213592.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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