U.S. flag

An official website of the United States government

NM_005422.4(TECTA):c.36T>G (p.Ser12=) AND Autosomal recessive nonsyndromic hearing loss 21

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2022
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:
RCV002279861.1

Allele description [Variation Report for NM_005422.4(TECTA):c.36T>G (p.Ser12=)]

NM_005422.4(TECTA):c.36T>G (p.Ser12=)

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.36T>G (p.Ser12=)
HGVS:
  • NC_000011.10:g.121102701T>G
  • NG_011633.1:g.5036T>G
  • NM_001378761.1:c.993T>G
  • NM_005422.4:c.36T>GMANE SELECT
  • NP_001365690.1:p.Ser331=
  • NP_005413.2:p.Ser12=
  • NC_000011.9:g.120973410T>G
Links:
dbSNP: rs2135046516
NCBI 1000 Genomes Browser:
rs2135046516
Molecular consequence:
  • NM_001378761.1:c.993T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005422.4:c.36T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002567908Department of Human Genetics, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 25, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Human Genetics, Hannover Medical School, SCV002567908.1

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

Description

The variant does not change the protein sequence. An in silico analysis of the variant performed by us revealed no evidence of a change in the splicing pattern. The variant is not currently known in the ClinVar, LOVD, or Deafness Variation Database, nor in the literature. It is also not listed in the population database gnomAD.

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

Last Updated: Dec 24, 2023