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NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) AND TSHR-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2023
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:
RCV004541520.2

Allele description [Variation Report for NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)]

NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)

Gene:
TSHR:thyroid stimulating hormone receptor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
14q31.1
Genomic location:
Preferred name:
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro)
HGVS:
  • NC_000014.9:g.81068278_81068281delinsTCCT
  • NG_009206.1:g.117754_117757delinsTCCT
  • NM_000369.2:c.267_270delinsTCCT
  • NM_000369.5:c.267_270delinsTCCTMANE SELECT
  • NM_001018036.3:c.267_270delinsTCCT
  • NM_001142626.3:c.267_270delinsTCCT
  • NP_000360.2:p.Gln90Pro
  • NP_001018046.1:p.Gln90Pro
  • NP_001136098.1:p.Gln90Pro
  • LRG_523t1:c.267_270delinsTCCT
  • LRG_523:g.117754_117757delinsTCCT
  • NC_000014.8:g.81534622_81534625delinsTCCT
  • NM_000369.2:c.267_270delGCAGinsTCCT
Protein change:
Q90P
Links:
dbSNP: rs1064794318
NCBI 1000 Genomes Browser:
rs1064794318
Molecular consequence:
  • NM_000369.5:c.267_270delinsTCCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018036.3:c.267_270delinsTCCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142626.3:c.267_270delinsTCCT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TSHR-related disorder
Synonyms:
TSHR-Related Disorders; TSHR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004786355PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Nov 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004786355.2

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

Description

The TSHR c.267_270delinsTCCT variant is predicted to result in an in-frame deletion and insertion. This variant has been reported to segregate in individuals with TSHR-related phenotypes in both the homozygous and heterozygous states (Figure 1, Sriphrapradang et al. 2011. PubMed ID: 21490078; Table 3, Tenenbaum-Rakover et al. 2015. PubMed ID: 25557138; Figure 2, Franceschi et al. 2022. PubMed ID: 36468928). Homozygous individuals presented with a more severe and penetrant phenotype than heterozygotes, and functional studies supported the pathogenicity of this variant (Sriphrapradang et al. 2011. PubMed ID: 21490078). This variant is reported in 0.00088% of alleles in individuals of European (non-Finnish) descent in gnomAD (reported as separate variants, but observed in cis in a single heterozygous individual; https://gnomad.broadinstitute.org/region/14-81534601-81534641). This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024