NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu) AND Hypothyroidism due to TSH receptor mutations

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1996
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:: RCV000006813.5

Allele description [Variation Report for NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)]

NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)

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.1575C>A (p.Phe525Leu)

HGVS:

NC_000014.9:g.81143633C>A
NG_009206.1:g.193109C>A
NM_000369.5:c.1575C>AMANE SELECT
NP_000360.2:p.Phe525Leu
LRG_523:g.193109C>A
NC_000014.8:g.81609977C>A

Protein change:

F525L; PHE525LEU

Links:

OMIM: 603372.0014; dbSNP: rs121908870

NCBI 1000 Genomes Browser:

rs121908870

Molecular consequence:

NM_000369.5:c.1575C>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027009	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027009

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1996)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

Details of each submission

From OMIM, SCV000027009.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the phe525-to-leu (F525L) 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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