NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 2016
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:: RCV000578525.1

Allele description [Variation Report for NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter)]

NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter)

Gene:

PDE10A:phosphodiesterase 10A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

Preferred name:

NM_001385079.1(PDE10A):c.2889G>A (p.Trp963Ter)

HGVS:

NC_000006.12:g.165343397C>T
NG_031878.2:g.323704G>A
NM_001130690.3:c.2091G>A
NM_001385079.1:c.2889G>AMANE SELECT
NM_006661.4:c.2061G>A
NP_001124162.1:p.Trp697Ter
NP_001124162.1:p.Trp697Ter
NP_001372008.1:p.Trp963Ter
NP_006652.1:p.Trp687Ter
NC_000006.11:g.165756886C>T
NM_001130690.2:c.2091G>A

Protein change:

W687*

Links:

dbSNP: rs1554240201

NCBI 1000 Genomes Browser:

rs1554240201

Molecular consequence:

NM_001130690.3:c.2091G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001385079.1:c.2889G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006661.4:c.2061G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000680813	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 9, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680813

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 9, 2016)

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, SCV000680813.1

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

Description

The W697X variant in the PDE10A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W697X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W697X as a variant of uncertain significance.

#	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: Apr 23, 2022

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