NM_001371333.1(DIABLO):c.*262dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 10, 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:: RCV001690966.1

Allele description [Variation Report for NM_001371333.1(DIABLO):c.*262dup]

NM_001371333.1(DIABLO):c.*262dup

Genes:

B3GNT4:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Gene - OMIM - HGNC]
DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_001371333.1(DIABLO):c.*262dup

HGVS:

NC_000012.12:g.122208126dup
NG_029459.1:g.24403dup
NM_001278302.1:c.*262dup
NM_001278303.1:c.*262dup
NM_001278304.2:c.*262dup
NM_001278342.1:c.*262dup
NM_001330492.2:c.*738dup
NM_001371333.1:c.*262dupMANE SELECT
NM_019887.6:c.*262dup
NM_030765.4:c.*738dupMANE SELECT
NM_138930.3:c.*262dup
NC_000012.11:g.122692673dup

Links:

dbSNP: rs138260989

NCBI 1000 Genomes Browser:

rs138260989

Molecular consequence:

NM_001278302.1:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278303.1:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278304.2:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278342.1:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001330492.2:c.*738dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001371333.1:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_019887.6:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_030765.4:c.*738dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_138930.3:c.*262dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV001910147	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Dec 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001910147

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Dec 10, 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, SCV001910147.2

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

#	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: Oct 8, 2024

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