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NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro) AND Familial hyperthyroidism due to mutations in TSH receptor

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989249.1

Allele description [Variation Report for NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)]

NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)

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.1429A>C (p.Thr477Pro)
HGVS:
  • NC_000014.9:g.81143487A>C
  • NG_009206.1:g.192963A>C
  • NM_000369.5:c.1429A>CMANE SELECT
  • NP_000360.2:p.Thr477Pro
  • LRG_523:g.192963A>C
  • NC_000014.8:g.81609831A>C
Protein change:
T477P
Links:
dbSNP: rs1595178231
NCBI 1000 Genomes Browser:
rs1595178231
Molecular consequence:
  • NM_000369.5:c.1429A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hyperthyroidism due to mutations in TSH receptor
Synonyms:
HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012203; MedGen: C1836706; Orphanet: 424; OMIM: 609152

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139492Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001139492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022