NM_001109878.2(TBX22):c.779C>T (p.Thr260Met) AND Cleft palate with ankyloglossia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2001
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:: RCV000012082.4

Allele description [Variation Report for NM_001109878.2(TBX22):c.779C>T (p.Thr260Met)]

NM_001109878.2(TBX22):c.779C>T (p.Thr260Met)

Gene:

TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_001109878.2(TBX22):c.779C>T (p.Thr260Met)

HGVS:

NC_000023.11:g.80026849C>T
NG_008998.1:g.17094C>T
NM_001109878.2:c.779C>TMANE SELECT
NM_001109879.2:c.419C>T
NM_001303475.1:c.419C>T
NM_016954.2:c.779C>T
NP_001103348.1:p.Thr260Met
NP_001103349.1:p.Thr140Met
NP_001290404.1:p.Thr140Met
NP_058650.1:p.Thr260Met
NC_000023.10:g.79282348C>T
Q9Y458:p.Thr260Met

Protein change:

T140M; THR260MET

Links:

UniProtKB: Q9Y458#VAR_015384; OMIM: 300307.0002; dbSNP: rs104894943

NCBI 1000 Genomes Browser:

rs104894943

Molecular consequence:

NM_001109878.2:c.779C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001109879.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001303475.1:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016954.2:c.779C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cleft palate with ankyloglossia
Identifiers:: MedGen: C1844831

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032316	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2001)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2563678, 11559848

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032316

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2001)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

X-linked cleft palate and ankyloglossia in an Icelandic family.

Björnsson A, Arnason A, Tippet P.

Cleft Palate J. 1989 Jan;26(1):3-8.

PubMed [citation]

PMID:: 2563678

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P.

Nat Genet. 2001 Oct;29(2):179-83.

PubMed [citation]

PMID:: 11559848

Details of each submission

From OMIM, SCV000032316.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a native kindred from British Columbia, which was one of the first described with cleft palate with ankyloglossia (see 303400) inherent in mendelian pattern (Bjornsson et al., 1989), Braybrook et al. (2001) identified a C-to-T transition in exon 5 of the TBX22 gene at nucleotide 785, resulting in a threonine-to-methionine substitution at codon 260.

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

Last Updated: Apr 23, 2022

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