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NM_199334.5(THRA):c.54-1G>A AND Congenital nongoitrous hypothyroidism 6

Germline classification:
Uncertain significance (1 submission)
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:
RCV000680127.3

Allele description [Variation Report for NM_199334.5(THRA):c.54-1G>A]

NM_199334.5(THRA):c.54-1G>A

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.54-1G>A
HGVS:
  • NC_000017.11:g.40076870G>A
  • NG_023345.1:g.19678G>A
  • NM_001190918.2:c.54-1G>A
  • NM_001190919.2:c.54-1G>A
  • NM_003250.6:c.54-1G>A
  • NM_199334.5:c.54-1G>AMANE SELECT
  • NC_000017.10:g.38233123G>A
  • NM_003250.5:c.54-1G>A
  • NM_199334.3:c.54-1G>A
Links:
dbSNP: rs199530759
NCBI 1000 Genomes Browser:
rs199530759
Molecular consequence:
  • NM_001190918.2:c.54-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001190919.2:c.54-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003250.6:c.54-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_199334.5:c.54-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Congenital nongoitrous hypothyroidism 6
Synonyms:
Congenital nongoitrous hypothryoidism 6
Identifiers:
MONDO: MONDO:0013757; MedGen: C3280817; Orphanet: 97927; OMIM: 614450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000807570Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]
PMID:
25326635
PMCID:
PMC4326249

Details of each submission

From Baylor Genetics, SCV000807570.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025