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NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) AND Autosomal recessive nonsyndromic hearing loss 21

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 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:
RCV000681543.1

Allele description [Variation Report for NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)]

NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)

Genes:
LOC126861365:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 [Gene]
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.2736C>A (p.Cys912Ter)
HGVS:
  • NC_000011.10:g.121130006C>A
  • NG_011633.1:g.32341C>A
  • NG_085864.1:g.662C>A
  • NM_001378761.1:c.3693C>A
  • NM_005422.4:c.2736C>AMANE SELECT
  • NP_001365690.1:p.Cys1231Ter
  • NP_005413.2:p.Cys912Ter
  • NP_005413.2:p.Cys912Ter
  • NC_000011.9:g.121000715C>A
  • NM_005422.2:c.2736C>A
Protein change:
C1231*
Links:
dbSNP: rs368050948
NCBI 1000 Genomes Browser:
rs368050948
Molecular consequence:
  • NM_001378761.1:c.3693C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005422.4:c.2736C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 21
Synonyms:
Deafness, autosomal recessive 21
Identifiers:
MONDO: MONDO:0011351; MedGen: C1863655; Orphanet: 90636; OMIM: 603629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000807735National Institute on Deafness and Communication Disorders, National Institutes of Health
no assertion criteria provided
Pathogenic
(Jul 5, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

Details of each submission

From National Institute on Deafness and Communication Disorders, National Institutes of Health, SCV000807735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024