NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 16, 2015
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:: RCV000484644.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs)]

NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs)

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.6449_6450del (p.Lys2150fs)

Other names:

6677delAA

HGVS:

NC_000013.11:g.32340804_32340805del
NG_012772.3:g.30325_30326del
NM_000059.4:c.6449_6450delMANE SELECT
NM_000059.4:c.6449_6450delAA
NP_000050.3:p.Lys2150fs
LRG_293t1:c.6448_6449del
LRG_293:g.30325_30326del
NC_000013.10:g.32914941_32914942del
NM_000059.3:c.6448_6449del
NM_000059.3:c.6449_6450delAA
U43746.1:n.6677_6678delAA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 6677&base_change=del AA; dbSNP: rs80359594

NCBI 1000 Genomes Browser:

rs80359594

Molecular consequence:

NM_000059.4:c.6449_6450del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000564790	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 16, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000564790

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 16, 2015)

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, SCV000564790.3

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

Description

This deletion of 2 nucleotides in BRCA2 is denoted c.6449_6450delAA at the cDNA level and p.Lys2150SerfsX25 (K2150SfsX25) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATTA[AA]GTTT. The deletion causes a frameshift, which changes a Lysine to a Serine at codon 2150, and creates a premature stop codon at position 25 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.6449_6450delAA, previously reported as 6677_6678delAA, has been observed in association with breast and/or ovarian cancer (Foretova 2004). we consider this variant to be 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 24, 2024

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