NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) AND TET3 deficiency

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001257927.1

Allele description [Variation Report for NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)]

NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)

Gene:

TET3:tet methylcytosine dioxygenase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)

HGVS:

NC_000002.12:g.74073606C>T
NM_001287491.2:c.2552C>TMANE SELECT
NM_001366022.1:c.2273C>T
NP_001274420.1:p.Thr851Met
NP_001352951.1:p.Thr758Met
NC_000002.11:g.74300733C>T
NM_001287491.1:c.2552C>T
NM_144993.1:c.2147C>T

Protein change:

T758M; THR851MET

Links:

OMIM: 613555.0006; dbSNP: rs1573856970

NCBI 1000 Genomes Browser:

rs1573856970

Molecular consequence:

NM_001287491.2:c.2552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001366022.1:c.2273C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: TET3 deficiency
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434736	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434736

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, et al.

Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9.

PubMed [citation]

PMID:: 31928709
PMCID:: PMC7010978

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434736.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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