NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 12, 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:: RCV000657768.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)]

NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)

HGVS:

NC_000013.11:g.32341000C>G
NG_012772.3:g.30521C>G
NM_000059.4:c.6645C>GMANE SELECT
NP_000050.2:p.Tyr2215Ter
NP_000050.3:p.Tyr2215Ter
LRG_293t1:c.6645C>G
LRG_293:g.30521C>G
LRG_293p1:p.Tyr2215Ter
NC_000013.10:g.32915137C>G
NM_000059.3:c.6645C>G
U43746.1:n.6873C>G
p.Y2215fs*13

Protein change:

Y2215*

Links:

dbSNP: rs80358892

NCBI 1000 Genomes Browser:

rs80358892

Molecular consequence:

NM_000059.4:c.6645C>G - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779521	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 12, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779521

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 12, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000779521.2

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

Description

This variant is denoted BRCA2 c.6645C>G at the cDNA level and p.Tyr2215Ter (Y2215X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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