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NM_003235.5(TG):c.6730C>T (p.Gln2244Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 6, 2023
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:
RCV003665256.2

Allele description [Variation Report for NM_003235.5(TG):c.6730C>T (p.Gln2244Ter)]

NM_003235.5(TG):c.6730C>T (p.Gln2244Ter)

Gene:
TG:thyroglobulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_003235.5(TG):c.6730C>T (p.Gln2244Ter)
HGVS:
  • NC_000008.11:g.133017945C>T
  • NG_015832.1:g.155986C>T
  • NG_015832.2:g.155989C>T
  • NM_003235.5:c.6730C>TMANE SELECT
  • NP_003226.4:p.Gln2244Ter
  • NC_000008.10:g.134030190C>T
Protein change:
Q2244*
Molecular consequence:
  • NM_003235.5:c.6730C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004375258Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 6, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS.

J Clin Endocrinol Metab. 2009 Dec;94(12):5045-52. doi: 10.1210/jc.2009-0646. Epub 2009 Oct 16.

PubMed [citation]
PMID:
19837936

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM.

Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16.

PubMed [citation]
PMID:
23164529
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004375258.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln2244*) in the TG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TG are known to be pathogenic (PMID: 19837936, 23164529). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TG-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024