NM_001288953.1(TTC7A):c.1474C>T (p.Gln492Ter) AND Multiple gastrointestinal atresias

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2014
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:: RCV000170531.2

Allele description

NM_001288953.1(TTC7A):c.1474C>T (p.Gln492Ter)

Gene:

TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_001288953.1(TTC7A):c.1474C>T (p.Gln492Ter)

HGVS:

NC_000002.12:g.47024294C>T
NG_034143.1:g.113166C>T
NM_001288953.1:c.1474C>T
NM_020458.3:c.1576C>T
NP_001275882.1:p.Gln492Ter
NP_065191.2:p.Gln526Ter
NC_000002.11:g.47251433C>T

Protein change:

Q492*; GLN526TER

Links:

OMIM: 609332.0015; dbSNP: rs786205698

NCBI 1000 Genomes Browser:

rs786205698

Molecular consequence:

NM_020458.3:c.1576C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Multiple gastrointestinal atresias (GIDID)
Synonyms:: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME; INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY; Combined immunodeficiency-enteropathy spectrum
Identifiers:: MedGen: C0220744; Orphanet: 2300; Orphanet: 436252; OMIM: 243150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223096	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223096

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2014)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, et al.

Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.

PubMed [citation]

PMID:: 24417819
PMCID:: PMC4002656

Details of each submission

From OMIM, SCV000223096.1

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

Description

For discussion of the c.1944C-T transition (c.1944C-T, NM_020458) in exon 14 of the TTC7A gene, resulting in a gln526-to-ter (Q526X) substitution, that was found in compound heterozygous state in a patient with gastrointestinal defects and immunodeficiency syndrome (GIDID; 243150) by Avitzur et al. (2014), see 609332.0014.

#	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: Dec 24, 2018

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