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NM_000369.5(TSHR):c.545+5G>T AND Hypothyroidism due to TSH receptor mutations

Germline classification:
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:
RCV001175132.1

Allele description [Variation Report for NM_000369.5(TSHR):c.545+5G>T]

NM_000369.5(TSHR):c.545+5G>T

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.545+5G>T
HGVS:
  • NC_000014.9:g.81092613G>T
  • NG_009206.1:g.142089G>T
  • NM_000369.5:c.545+5G>TMANE SELECT
  • NM_001018036.3:c.545+5G>T
  • NM_001142626.3:c.545+5G>T
  • LRG_523t1:c.545+5G>T
  • LRG_523:g.142089G>T
  • NC_000014.8:g.81558957G>T
  • NM_000369.2:c.545+5G>T
Links:
dbSNP: rs1888838395
NCBI 1000 Genomes Browser:
rs1888838395
Molecular consequence:
  • NM_000369.5:c.545+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018036.3:c.545+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142626.3:c.545+5G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001250739Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
no assertion criteria provided
Pathogenic
(May 14, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiangermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV001250739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asiannot providednot providednot providedresearchnot provided
2South East Asiannot providednot providednot providedresearchnot provided

Description

Absence in in-house Thai database (910 alleles), this variant had positive prediction of changing the splice site.

Absence in in-house Thai database (910 alleles), this variant had positive of changing the splice site.

Description

The patient showed classical presentation of congenital primary hypothyroidism.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022