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NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:
Dec 2, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000593220.15

Allele description [Variation Report for NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)]

NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)

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.4085G>A (p.Trp1362Ter)
HGVS:
  • NC_000011.10:g.121146096G>A
  • NG_011633.1:g.48431G>A
  • NM_001378761.1:c.5042G>A
  • NM_005422.4:c.4085G>AMANE SELECT
  • NP_001365690.1:p.Trp1681Ter
  • NP_005413.2:p.Trp1362Ter
  • NP_005413.2:p.Trp1362Ter
  • NC_000011.9:g.121016805G>A
  • NM_005422.2(TECTA):c.4085G>A
  • NM_005422.2:c.4085G>A
  • p.Trp1362Ter
  • p.Trp1362X
Protein change:
W1362*
Links:
dbSNP: rs199638531
NCBI 1000 Genomes Browser:
rs199638531
Molecular consequence:
  • NM_001378761.1:c.5042G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005422.4:c.4085G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000703594Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Pathogenic
(Dec 7, 2016)
germlineclinical testing

Citation Link,

SCV001584375Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 13, 2024)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001829314GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Dec 2, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback.

Legan PK, Lukashkina VA, Goodyear RJ, Kössi M, Russell IJ, Richardson GP.

Neuron. 2000 Oct;28(1):273-85.

PubMed [citation]
PMID:
11087000

Distinctive audiometric profile associated with DFNB21 alleles of TECTA.

Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S.

J Med Genet. 2003 May;40(5):360-3. No abstract available.

PubMed [citation]
PMID:
12746400
PMCID:
PMC1735454
See all PubMed Citations (6)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000703594.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001584375.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Trp1362*) in the TECTA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TECTA are known to be pathogenic (PMID: 11087000, 12746400, 17431902, 24130743). This variant is present in population databases (rs199638531, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with non-syndromic deafness (PMID: 31163360). ClinVar contains an entry for this variant (Variation ID: 498538). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001829314.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31163360)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 1, 2025