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NM_001206744.2(TPO):c.2421del (p.Cys808fs) AND Deficiency of iodide peroxidase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2017
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:
RCV000761530.2

Allele description [Variation Report for NM_001206744.2(TPO):c.2421del (p.Cys808fs)]

NM_001206744.2(TPO):c.2421del (p.Cys808fs)

Gene:
TPO:thyroid peroxidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p25.3
Genomic location:
Preferred name:
NM_001206744.2(TPO):c.2421del (p.Cys808fs)
HGVS:
  • NC_000002.12:g.1503982del
  • NG_011581.1:g.95520del
  • NM_000547.6:c.2421del
  • NM_001206744.2:c.2421delMANE SELECT
  • NM_001206745.2:c.2250del
  • NM_175719.4:c.2250del
  • NM_175721.3:c.2386+7217del
  • NM_175722.3:c.1902del
  • NP_000538.3:p.Cys808fs
  • NP_000538.3:p.Cys808fs
  • NP_001193673.1:p.Cys808fs
  • NP_001193674.1:p.Cys751fs
  • NP_783650.1:p.Cys751fs
  • NP_783653.1:p.Cys635fs
  • NC_000002.11:g.1507748del
  • NC_000002.11:g.1507754del
  • NM_000547.5:c.2421del
Protein change:
C635fs
Links:
dbSNP: rs760307139
NCBI 1000 Genomes Browser:
rs760307139
Molecular consequence:
  • NM_000547.6:c.2421del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001206744.2:c.2421del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001206745.2:c.2250del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175719.4:c.2250del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175722.3:c.1902del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175721.3:c.2386+7217del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Deficiency of iodide peroxidase (TDH2A)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A; IODIDE PEROXIDASE DEFICIENCY; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010133; MedGen: C1291299; Orphanet: 95716; OMIM: 274500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891666Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 30, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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

Details of each submission

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891666.1

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

Last Updated: Sep 29, 2024