NM_000059.4(BRCA2):c.7958TTC[1] (p.Leu2654del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 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:: RCV001027005.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.7958TTC[1] (p.Leu2654del)]

NM_000059.4(BRCA2):c.7958TTC[1] (p.Leu2654del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.7958TTC[1] (p.Leu2654del)

HGVS:

NC_000013.11:g.32362675TTC[1]
NC_000013.11:g.32362675_32362677TTC[1]
NG_012772.3:g.52196TTC[1]
NM_000059.4:c.7958TTC[1]MANE SELECT
NP_000050.3:p.Leu2654del
LRG_293t1:c.7961_7963del
LRG_293:g.52196TTC[1]
NC_000013.10:g.32936811_32936813del
NC_000013.10:g.32936812TTC[1]
NM_000059.3:c.7961_7963delTTC

Protein change:

L2654del

Links:

dbSNP: rs1593924305

NCBI 1000 Genomes Browser:

rs1593924305

Molecular consequence:

NM_000059.4:c.7958TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001189491	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001189491

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 30, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001189491.4

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

Description

The c.7961_7963delTTC variant (also known as p.L2654del) is located in coding exon 16 of the BRCA2 gene. This variant results from an in-frame TTC deletion at nucleotide positions 7961 to 7963. This results in the in-frame deletion of a leucine at codon 2654. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

Last Updated: Jun 2, 2024

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