NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) AND Autosomal recessive nonsyndromic hearing loss 8

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 8, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001140697.5

Allele description [Variation Report for NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)]

NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)

Gene:

TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)

HGVS:

NC_000021.9:g.42388971C>T
NG_011629.2:g.12121G>A
NM_001256317.3:c.280G>AMANE SELECT
NM_024022.4:c.280G>A
NM_032404.3:c.-102G>A
NM_032405.2:c.280G>A
NP_001243246.1:p.Gly94Arg
NP_076927.1:p.Gly94Arg
NP_115781.1:p.Gly94Arg
NC_000021.8:g.43809080C>T
NM_024022.2:c.280G>A
NM_024022.3:c.280G>A

Protein change:

G94R

Links:

dbSNP: rs143762350

NCBI 1000 Genomes Browser:

rs143762350

Molecular consequence:

NM_032404.3:c.-102G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001256317.3:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024022.4:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032405.2:c.280G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 8
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8; Deafness, autosomal recessive 8; Deafness, autosomal recessive 10
Identifiers:: MONDO: MONDO:0010987; MedGen: C1832827; Orphanet: 90636; OMIM: 601072

Recent activity

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Homo sapiens vesicle transport through interaction with t-SNAREs 1A (VTI1A), tra...
Homo sapiens vesicle transport through interaction with t-SNAREs 1A (VTI1A), transcript variant 1, mRNA
gi|1890334186|ref|NM_001318203.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001300980	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25770132, 23967202 Citation Link,
SCV002786083	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 8, 2021)	unknown	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

SCV001300980

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV002786083

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 8, 2021)

unknown

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.

Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:193S-204S. doi: 10.1177/0003489415575056. Epub 2015 Mar 13.

PubMed [citation]

PMID:: 25770132

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M, Naito T, Nishio SY, Kamatani N, Usami S.

PLoS One. 2013;8(8):e71381. doi: 10.1371/journal.pone.0071381.

PubMed [citation]

PMID:: 23967202
PMCID:: PMC3742761

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001300980.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002786083.1

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

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

Last Updated: Dec 24, 2023

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