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NM_147196.3(TMIE):c.218C>T (p.Thr73Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 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:
RCV000604397.4

Allele description [Variation Report for NM_147196.3(TMIE):c.218C>T (p.Thr73Met)]

NM_147196.3(TMIE):c.218C>T (p.Thr73Met)

Gene:
TMIE:transmembrane inner ear [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_147196.3(TMIE):c.218C>T (p.Thr73Met)
HGVS:
  • NC_000003.12:g.46709132C>T
  • NG_011628.1:g.12800C>T
  • NM_001370524.1:c.59C>T
  • NM_001370525.1:c.59C>T
  • NM_147196.3:c.218C>TMANE SELECT
  • NP_001357453.1:p.Thr20Met
  • NP_001357454.1:p.Thr20Met
  • NP_671729.2:p.Thr73Met
  • NP_671729.2:p.Thr73Met
  • NC_000003.11:g.46750622C>T
  • NM_147196.2:c.218C>T
Protein change:
T20M
Links:
dbSNP: rs770957465
NCBI 1000 Genomes Browser:
rs770957465
Molecular consequence:
  • NM_001370524.1:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370525.1:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147196.3:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000712812Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 13, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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, SCV000712812.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Thr73Met variant in TMIE has not been previously reported in individuals w ith hearing loss. It has been identified in 1/8618 East Asian and 1/66590 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org); however, its frequency is not high enough to rule out a pathogenic ro le. Computational prediction tools and conservation analyses do not provide stro ng support for or against an impact to the protein. In summary, the clinical sig nificance of the p.Thr73Met variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Mar 4, 2023