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NM_005422.4(TECTA):c.2967C>A (p.His989Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2016
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:
RCV000606882.4

Allele description [Variation Report for NM_005422.4(TECTA):c.2967C>A (p.His989Gln)]

NM_005422.4(TECTA):c.2967C>A (p.His989Gln)

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.2967C>A (p.His989Gln)
HGVS:
  • NC_000011.10:g.121137446C>A
  • NG_011633.1:g.39781C>A
  • NM_001378761.1:c.3924C>A
  • NM_005422.4:c.2967C>AMANE SELECT
  • NP_001365690.1:p.His1308Gln
  • NP_005413.2:p.His989Gln
  • NP_005413.2:p.His989Gln
  • NC_000011.9:g.121008155C>A
  • NM_005422.2:c.2967C>A
Protein change:
H1308Q
Links:
dbSNP: rs200821009
NCBI 1000 Genomes Browser:
rs200821009
Molecular consequence:
  • NM_001378761.1:c.3924C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005422.4:c.2967C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000712609Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 6, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

Ishikawa K, Naito T, Nishio SY, Iwasa Y, Nakamura K, Usami S, Ichimura K.

Acta Otolaryngol. 2014 Jun;134(6):557-63. doi: 10.3109/00016489.2014.890740. Epub 2014 Mar 21.

PubMed [citation]
PMID:
24655070

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000712609.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.His989Gln var iant in TECTA has been reported in 1 Japanese family with hearing loss; however, the hearing loss was likely due to a variant in a different gene (Ishikawa 2014 ). This variant has been identified in 0.2% of East Asian chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200821 009). Computational prediction tools and conservation analysis suggest that the p.His989Gln variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, while the clinical signific ance of the p.His989Gln variant is uncertain, these data suggest that it is more likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Oct 8, 2024