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NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) AND Hypothyroidism due to TSH receptor mutations

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 14, 2020
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:
RCV001175135.2

Allele description [Variation Report for NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)]

NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)

Gene:
TSHR:thyroid stimulating hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.1
Genomic location:
Preferred name:
NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)
HGVS:
  • NC_000014.9:g.81144018A>T
  • NG_009206.1:g.193494A>T
  • NM_000369.5:c.1960A>TMANE SELECT
  • NP_000360.2:p.Ile654Phe
  • LRG_523t1:c.1960A>T
  • LRG_523:g.193494A>T
  • NC_000014.8:g.81610362A>T
  • NM_000369.2:c.1960A>T
Protein change:
I654F
Links:
dbSNP: rs767239688
NCBI 1000 Genomes Browser:
rs767239688
Molecular consequence:
  • NM_000369.5:c.1960A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypothyroidism due to TSH receptor mutations
Synonyms:
HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; HYPOTHYROIDISM, NONAUTOIMMUNE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010142; MedGen: C3493776; Orphanet: 90673; OMIM: 275200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250733Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
no assertion criteria provided
Likely pathogenic
(May 14, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiangermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV001250733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearchnot provided

Description

Allele frequency in in-house Thai database (910 alleles) 0.0021978, Multiple lines of computational evidence support as deleterious and damaging

Description

The patient showed classical presentation​ of congenital primary hypothyroidism with no thyroidal uptake but normal uptake of salivary gland on thyroid scintigraphy

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024