NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 23, 2022
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:: RCV002513376.3

Allele description [Variation Report for NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)]

NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)

Gene:

POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)

HGVS:

NC_000023.11:g.83508665G>A
NG_009936.2:g.5405G>A
NM_000307.5:c.341G>AMANE SELECT
NP_000298.3:p.Trp114Ter
NC_000023.10:g.82763673G>A
NM_000307.3:c.341G>A
c.341G>A
p.Trp114X

Protein change:

W114*

Links:

dbSNP: rs111033343

NCBI 1000 Genomes Browser:

rs111033343

Molecular consequence:

NM_000307.5:c.341G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003445359	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 23, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21633365, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003445359

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 23, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular and clinical studies of X-linked deafness among Pakistani families.

Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.

J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. Erratum in: J Hum Genet. 2011 Oct;56(10):752. Binder, Munir A [corrected to Bhinder, Munir A].

PubMed [citation]

PMID:: 21633365
PMCID:: PMC3143270

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003445359.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 43346). This premature translational stop signal has been observed in individual(s) with X-linked recessive deafness (PMID: 21633365). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp114*) in the POU3F4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 248 amino acid(s) of the POU3F4 protein.

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

Last Updated: Sep 29, 2024

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