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NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) AND Hypothyroidism due to TSH receptor mutations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1997
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:
RCV000006814.5

Allele description [Variation Report for NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)]

NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)

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.1170T>G (p.Cys390Trp)
HGVS:
  • NC_000014.9:g.81143228T>G
  • NG_009206.1:g.192704T>G
  • NM_000369.5:c.1170T>GMANE SELECT
  • NP_000360.2:p.Cys390Trp
  • LRG_523:g.192704T>G
  • NC_000014.8:g.81609572T>G
Protein change:
C390W; CYS390TRP
Links:
OMIM: 603372.0015; dbSNP: rs121908871
NCBI 1000 Genomes Browser:
rs121908871
Molecular consequence:
  • NM_000369.5:c.1170T>G - 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
SCV000027010OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M.

J Clin Endocrinol Metab. 1996 Jun;81(6):2023-6.

PubMed [citation]
PMID:
8964822

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A.

J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80.

PubMed [citation]
PMID:
9329388

Details of each submission

From OMIM, SCV000027010.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

For discussion of the cys390-to-trp (C390W) mutation in the TSHR gene that was found in a patient with congenital hypoparathyroidism (CHNG1; 275200) by de Roux et al. (1996), see 603372.0011.

For discussion of the C390W mutation in the TSHR gene that was found in compound heterozygous state in a patient with congenital hypothyroidism with reduced thyroid volume by Biebermann et al. (1997), see 603372.0018. Biebermann et al. (1997) found that the C390W mutation resulted in decreased affinity of TSH for the TSHR.

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

Last Updated: Jan 7, 2023