NM_005422.4(TECTA):c.458C>T (p.Thr153Met) AND Autosomal dominant nonsyndromic hearing loss 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 2, 2018
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:: RCV000735680.3

Allele description [Variation Report for NM_005422.4(TECTA):c.458C>T (p.Thr153Met)]

NM_005422.4(TECTA):c.458C>T (p.Thr153Met)

Genes:

TBCEL-TECTA:TBCEL-TECTA readthrough [Gene - HGNC]
TECTA:tectorin alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_005422.4(TECTA):c.458C>T (p.Thr153Met)

Other names:

p.Thr153Met

HGVS:

NC_000011.10:g.121109470C>T
NG_011633.1:g.11805C>T
NM_001378761.1:c.1415C>T
NM_005422.4:c.458C>TMANE SELECT
NP_001365690.1:p.Thr472Met
NP_005413.2:p.Thr153Met
NP_005413.2:p.Thr153Met
NC_000011.9:g.120980179C>T
NM_005422.2:c.458C>T

Protein change:

T153M

Links:

dbSNP: rs1555121799

NCBI 1000 Genomes Browser:

rs1555121799

Molecular consequence:

NM_001378761.1:c.1415C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005422.4:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 12
Synonyms:: DEAFNESS, AUTOSOMAL DOMINANT 8; Deafness, autosomal dominant 12
Identifiers:: MONDO: MONDO:0011102; MedGen: C1832187; Orphanet: 90635; OMIM: 601543

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000863824	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Uncertain significance (Mar 2, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863824

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Uncertain significance
(Mar 2, 2018)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000863824.1

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

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

Last Updated: Apr 15, 2024

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