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NM_005422.4(TECTA):c.5941T>A (p.Tyr1981Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 31, 2015
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:
RCV000428198.1

Allele description [Variation Report for NM_005422.4(TECTA):c.5941T>A (p.Tyr1981Asn)]

NM_005422.4(TECTA):c.5941T>A (p.Tyr1981Asn)

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.5941T>A (p.Tyr1981Asn)
HGVS:
  • NC_000011.10:g.121168867T>A
  • NG_011633.1:g.71202T>A
  • NM_001378761.1:c.6883T>A
  • NM_005422.4:c.5941T>AMANE SELECT
  • NP_001365690.1:p.Tyr2295Asn
  • NP_005413.2:p.Tyr1981Asn
  • NP_005413.2:p.Tyr1981Asn
  • NC_000011.9:g.121039576T>A
  • NM_005422.2:c.5941T>A
Protein change:
Y1981N
Links:
dbSNP: rs1057520561
NCBI 1000 Genomes Browser:
rs1057520561
Molecular consequence:
  • NM_001378761.1:c.6883T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005422.4:c.5941T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000516049GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 31, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000516049.4

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

Description

The Y1981N variant in the TECTA gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The Y1981N variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The Y1981Nvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure asthese residues differ in some properties. This substitution occurs at a position that is conserved throughmammals. In silico analysis predicts this substitution is probably damaging to the protein structure/function. Inaddition, a missense variant in an adjacent residue (A1982D) has been reported in the Human GeneMutation Database in association with hearing impairment (Stenson et al., 2014), supporting the functionalimportance of this region of the protein. We interpret Y1981N as a pathogenic variant.

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

Last Updated: Apr 23, 2022