NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 2, 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:: RCV000215074.4

Allele description [Variation Report for NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)]

NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)

Genes:

LOC130009040:ATAC-STARR-seq lymphoblastoid active region 7211 [Gene]
DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)

HGVS:

NC_000012.12:g.122225996A>T
NG_029459.1:g.6526T>A
NM_001278302.1:c.-112T>A
NM_001278303.1:c.-68T>A
NM_001278342.1:c.19T>A
NM_001371333.1:c.19T>AMANE SELECT
NM_019887.6:c.19T>A
NM_138930.3:c.-112T>A
NP_001265271.1:p.Trp7Arg
NP_001358262.1:p.Trp7Arg
NP_063940.1:p.Trp7Arg
NC_000012.11:g.122710543A>T
NM_019887.4:c.19T>A
NM_019887.5:c.19T>A

Protein change:

W7R

Links:

dbSNP: rs139511903

NCBI 1000 Genomes Browser:

rs139511903

Molecular consequence:

NM_001278302.1:c.-112T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001278303.1:c.-68T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_138930.3:c.-112T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001278342.1:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371333.1:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_019887.6:c.19T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271644	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jun 2, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271644

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jun 2, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271644.2

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

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Trp7Arg varia nt in DIABLO has not been previously reported in individuals with hearing loss, but has been identified in 0.16% (43/27134) European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs139511903). Computational prediction tools and conservation analysis suggest that this varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p. Trp7Arg variant is uncertain, its frequency in general population suggests that it is more likely to be benign.

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

Last Updated: Mar 16, 2024

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