NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 5, 2018
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:: RCV001024551.2

Allele description

NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer)

HGVS:

NC_000013.11:g.32316518_32316519insGCTTGCAGTGAGCCGAGATCGCGCC
NG_012772.3:g.6039_6040insGCTTGCAGTGAGCCGAGATCGCGCC
NG_017006.2:g.3845_3846insGGCGCGATCTCGGCTCACTGCAAGC
NM_000059.4:c.58_59insGCTTGCAGTGAGCCGAGATCGCGCCMANE SELECT
NP_000050.3:p.Asn20delinsSerLeuGlnTer
LRG_293t1:c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC
LRG_293:g.6039_6040insGCTTGCAGTGAGCCGAGATCGCGCC
NC_000013.10:g.32890655_32890656insGCTTGCAGTGAGCCGAGATCGCGCC
NG_017006.1:g.436_437insGGCGCGATCTCGGCTCACTGCAAGC
NM_000059.3:c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC

Links:

dbSNP: rs1593880798

NCBI 1000 Genomes Browser:

rs1593880798

Molecular consequence:

NM_000059.4:c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001186583	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Jan 5, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001186583

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Jan 5, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001186583.3

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

Description

The c.58_59ins25 variant, located in coding exon 1 of the BRCA2 gene, results from an insertion of 25 nucleotides at position 58, causing a translational frameshift with a predicted alternate stop codon (p.N20Sfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Dec 24, 2023

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