NM_000059.4(BRCA2):c.2514del (p.Lys838fs) AND Polyposis syndrome, hereditary mixed, 1

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002280113.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.2514del (p.Lys838fs)]

NM_000059.4(BRCA2):c.2514del (p.Lys838fs)

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.2514del (p.Lys838fs)

Other names:

2742delA

HGVS:

NC_000013.11:g.32336869del
NG_012772.3:g.26390del
NM_000059.4:c.2514delMANE SELECT
NP_000050.2:p.Lys838fs
NP_000050.3:p.Lys838fs
LRG_293t1:c.2514del
LRG_293:g.26390del
LRG_293p1:p.Lys838fs
NC_000013.10:g.32911006del
NM_000059.3:c.2514del
NM_000059.4:c.2514delAMANE SELECT
p.Lys838fs

Protein change:

K838fs

Links:

dbSNP: rs886040433

NCBI 1000 Genomes Browser:

rs886040433

Molecular consequence:

NM_000059.4:c.2514del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Polyposis syndrome, hereditary mixed, 1
Synonyms:: COLORECTAL ADENOMA AND CARCINOMA 1; CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB
Identifiers:: MONDO: MONDO:0042486; MedGen: C1832587; Orphanet: 157794; OMIM: 601228

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002568374	Genomic Center, National Cancer Institute	no assertion criteria provided	Likely pathogenic	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002568374

Genomic Center, National Cancer Institute

no assertion criteria provided

Likely pathogenic

germline

case-control

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	case-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV002568374.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

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

Last Updated: Sep 1, 2024

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