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NM_001354712.2(THRB):c.1021C>G (p.Leu341Val) AND Thyroid hormone resistance, generalized, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 5, 2017
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:
RCV000579271.2

Allele description [Variation Report for NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)]

NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)

Gene:
THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.2
Genomic location:
Preferred name:
NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)
HGVS:
  • NC_000003.12:g.24127622G>C
  • NG_009159.1:g.372201C>G
  • NM_000461.5:c.1021C>G
  • NM_001128176.3:c.1021C>G
  • NM_001128177.2:c.1021C>G
  • NM_001252634.2:c.1021C>G
  • NM_001354708.2:c.1021C>G
  • NM_001354709.2:c.1021C>G
  • NM_001354710.2:c.1021C>G
  • NM_001354711.2:c.1021C>G
  • NM_001354712.2:c.1021C>GMANE SELECT
  • NM_001354713.2:c.1021C>G
  • NM_001354714.2:c.928C>G
  • NM_001354715.2:c.928C>G
  • NP_000452.2:p.Leu341Val
  • NP_001121648.1:p.Leu341Val
  • NP_001121649.1:p.Leu341Val
  • NP_001239563.1:p.Leu341Val
  • NP_001341637.1:p.Leu341Val
  • NP_001341638.1:p.Leu341Val
  • NP_001341639.1:p.Leu341Val
  • NP_001341640.1:p.Leu341Val
  • NP_001341641.1:p.Leu341Val
  • NP_001341642.1:p.Leu341Val
  • NP_001341643.1:p.Leu310Val
  • NP_001341644.1:p.Leu310Val
  • NC_000003.11:g.24169113G>C
Protein change:
L310V
Links:
dbSNP: rs1553610984
NCBI 1000 Genomes Browser:
rs1553610984
Molecular consequence:
  • NM_000461.5:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.1021C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.928C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.928C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]
Observations:
1

Condition(s)

Name:
Thyroid hormone resistance, generalized, autosomal dominant (GRTHD)
Synonyms:
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Identifiers:
MONDO: MONDO:0008569; MedGen: C2937288; OMIM: 188570

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000575772Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista
no assertion criteria provided
Likely pathogenic
(Apr 5, 2017) 		not applicable, unknown, maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing
not providednot applicableyes31not providednot providednot providedclinical testing
not providedmaternalyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, SCV000575772.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
21not providednot providedclinical testingnot provided
31not providednot providedclinical testingnot provided
41not providednot providedclinical testingnot provided

Description

1. Mother and two children present the mutation coinciding with clinical manifestation; 2. The amino acid change is predicted to be deleterious by independent in silico algorithms; 3. The residue is annotated as part of the hormone binding site; 4. This is not a known polymorfism (absent in dbSNP).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicableyesnot providednot providednot provided3not provided1not provided
2unknownyesnot providednot providednot provided1not providednot providednot provided
3maternalyesnot providednot providednot provided1not providednot providednot provided
4maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024