NM_000059.4(BRCA2):c.3754del (p.Ser1252fs) AND Breast and/or ovarian cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 11, 2019
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:: RCV001271033.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3754del (p.Ser1252fs)]

NM_000059.4(BRCA2):c.3754del (p.Ser1252fs)

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.3754del (p.Ser1252fs)

HGVS:

NC_000013.11:g.32338109del
NG_012772.3:g.27630del
NM_000059.4:c.3754delMANE SELECT
NP_000050.3:p.Ser1252fs
LRG_293t1:c.3753del
LRG_293:g.27630del
NC_000013.10:g.32912246del
NM_000059.3:c.3753delT

Protein change:

S1252fs

Links:

dbSNP: rs2072487814

NCBI 1000 Genomes Browser:

rs2072487814

Molecular consequence:

NM_000059.4:c.3754del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451848	CZECANCA consortium	no assertion criteria provided	Pathogenic (Jun 11, 2019)	germline	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

SCV001451848

CZECANCA consortium

no assertion criteria provided

Pathogenic
(Jun 11, 2019)

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
Slavic	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]

PMID:: 32295079
PMCID:: PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451848.1

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

Last Updated: Sep 1, 2024

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