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NM_199334.5(THRA):c.287G>T (p.Cys96Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2022
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:
RCV002641580.2

Allele description [Variation Report for NM_199334.5(THRA):c.287G>T (p.Cys96Phe)]

NM_199334.5(THRA):c.287G>T (p.Cys96Phe)

Gene:
THRA:thyroid hormone receptor alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.1
Genomic location:
Preferred name:
NM_199334.5(THRA):c.287G>T (p.Cys96Phe)
HGVS:
  • NC_000017.11:g.40083899G>T
  • NG_023345.1:g.26707G>T
  • NM_001190918.2:c.287G>T
  • NM_001190919.2:c.287G>T
  • NM_003250.6:c.287G>T
  • NM_199334.5:c.287G>TMANE SELECT
  • NP_001177847.1:p.Cys96Phe
  • NP_001177848.1:p.Cys96Phe
  • NP_003241.2:p.Cys96Phe
  • NP_955366.1:p.Cys96Phe
  • NC_000017.10:g.38240152G>T
  • NM_003250.5:c.287G>T
Protein change:
C96F
Molecular consequence:
  • NM_001190918.2:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190919.2:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003250.6:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199334.5:c.287G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003527931Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003527931.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.287G>T (p.C96F) alteration is located in exon 5 (coding exon 4) of the THRA gene. This alteration results from a G to T substitution at nucleotide position 287, causing the cysteine (C) at amino acid position 96 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024