NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) AND Autosomal dominant nonsyndromic hearing loss 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001106727.4

Allele description [Variation Report for NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)]

NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)

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.3743C>T (p.Pro1248Leu)

HGVS:

NC_000011.10:g.121145754C>T
NG_011633.1:g.48089C>T
NM_001378761.1:c.4700C>T
NM_005422.4:c.3743C>TMANE SELECT
NP_001365690.1:p.Pro1567Leu
NP_005413.2:p.Pro1248Leu
NP_005413.2:p.Pro1248Leu
NC_000011.9:g.121016463C>T
NM_005422.2:c.3743C>T

Protein change:

P1248L

Links:

dbSNP: rs138768918

NCBI 1000 Genomes Browser:

rs138768918

Molecular consequence:

NM_001378761.1:c.4700C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005422.4:c.3743C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001263822	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24586623, 21520338, 25262649, 27068579 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001263822

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

Citations

PubMed

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Su Y, Tang WX, Gao X, Yu F, Dai ZY, Zhao JD, Lu Y, Ji F, Huang SS, Yuan YY, Han MY, Song YS, Zhu YH, Kang DY, Han DY, Dai P.

PLoS One. 2014;9(2):e89240. doi: 10.1371/journal.pone.0089240.

PubMed [citation]

PMID:: 24586623
PMCID:: PMC3931719

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, et al.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

PubMed [citation]

PMID:: 21520338
PMCID:: PMC3326665

See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001263822.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine