NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 10, 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:: RCV000039347.6

Allele description [Variation Report for NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His)]

NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His)

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.298G>C (p.Asp100His)

HGVS:

NC_000021.9:g.42388953C>G
NG_011629.2:g.12139G>C
NM_001256317.3:c.298G>CMANE SELECT
NM_024022.4:c.298G>C
NM_032404.3:c.-84G>C
NM_032405.2:c.298G>C
NP_001243246.1:p.Asp100His
NP_076927.1:p.Asp100His
NP_115781.1:p.Asp100His
NC_000021.8:g.43809062C>G
NM_024022.2:c.298G>C
c.298G>C

Protein change:

D100H

Links:

dbSNP: rs397517374

NCBI 1000 Genomes Browser:

rs397517374

Molecular consequence:

NM_032404.3:c.-84G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001256317.3:c.298G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024022.4:c.298G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032405.2:c.298G>C - 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
SCV000063031	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Oct 10, 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

SCV000063031

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Oct 10, 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	2	2	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, SCV000063031.6

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

Description

The p.Asp100His variant in TMPRSS3 has been reported by our laboratory in 1 Cauc asian individual with hearing loss; however, a variant affecting the remaining c opy of TMPRSS3 was not identified in this individual (LMM unpublished data). It has also been identified in 1/11568 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517374). Computatio nal prediction tools and conservation analysis suggest that the p.Asp100His vari ant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asp10 0His variant is uncertain.

#	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		2	not provided	2	not provided

Last Updated: Feb 7, 2023

ClinVar

Relating variation to medicine