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NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) AND Autosomal recessive nonsyndromic hearing loss 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000477944.1

Allele description [Variation Report for NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)]

NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)

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.1149G>T (p.Met383Ile)
HGVS:
  • NC_000021.9:g.42376583C>A
  • NG_011629.2:g.24509G>T
  • NM_001256317.3:c.1149G>TMANE SELECT
  • NM_024022.4:c.1152G>T
  • NM_032404.3:c.771G>T
  • NP_001243246.1:p.Met383Ile
  • NP_076927.1:p.Met384Ile
  • NP_115780.1:p.Met257Ile
  • NC_000021.8:g.43796692C>A
  • NM_024022.2:c.1152G>T
Protein change:
M257I
Links:
dbSNP: rs727503492
NCBI 1000 Genomes Browser:
rs727503492
Molecular consequence:
  • NM_001256317.3:c.1149G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024022.4:c.1152G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032404.3:c.771G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536725Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Mar 9, 2015) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536725.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025