NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 5, 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:: RCV000412996.1

Allele description [Variation Report for NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)]

NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)

HGVS:

NC_000001.11:g.215675220G>A
NG_009497.2:g.753229C>T
NM_206933.4:c.12691C>TMANE SELECT
NP_996816.3:p.Gln4231Ter
NC_000001.10:g.215848562G>A
NG_009497.1:g.753177C>T
NM_206933.2:c.12691C>T

Protein change:

Q4231*

Links:

dbSNP: rs1057517844

NCBI 1000 Genomes Browser:

rs1057517844

Molecular consequence:

NM_206933.4:c.12691C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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serine/threonine-protein kinase WNK3 isoform X3 [Homo sapiens]
serine/threonine-protein kinase WNK3 isoform X3 [Homo sapiens]
gi|768037057|ref|XP_011529104.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490876	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490876

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 5, 2016)

germline

clinical testing

Citation Link

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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, SCV000490876.2

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

Description

The Q4231X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q4231X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret Q4231X as a pathogenic variant.

#	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: Jun 23, 2024

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