NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) AND Asphyxiating thoracic dystrophy 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 18, 2018
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:: RCV000656518.1

Allele description [Variation Report for NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)]

NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)

Gene:

TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)

HGVS:

NC_000002.12:g.165883873A>G
NG_030345.1:g.74966T>C
NM_024753.5:c.3605T>CMANE SELECT
NP_079029.3:p.Leu1202Pro
NC_000002.11:g.166740383A>G
NM_024753.4:c.3605T>C

Protein change:

L1202P; LEU1202PRO

Links:

OMIM: 612014.0007; dbSNP: rs759086770

NCBI 1000 Genomes Browser:

rs759086770

Molecular consequence:

NM_024753.5:c.3605T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Asphyxiating thoracic dystrophy 4 (SRTD4)
Synonyms:: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 4
Identifiers:: MONDO: MONDO:0013441; MedGen: C3151185; Orphanet: 474; OMIM: 613819

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778523	OMIM	no assertion criteria provided	Pathogenic (Jun 18, 2018)	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

SCV000778523

OMIM

no assertion criteria provided

Pathogenic
(Jun 18, 2018)

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

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL.

Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17.

PubMed [citation]

PMID:: 25492405

Details of each submission

From OMIM, SCV000778523.1

#	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.3605T-C transition (c.3605T-C, NM_024753) in exon 26 of the TTC21B gene, resulting in a leu1202-to-pro (L1202P) substitution, that was found in compound heterozygous state in a British adult patient (SKPD-203.3) with short-rib thoracic dysplasia without polydactyly (SRTD4; 613819) by McInerney-Leo et al. (2015), see 612014.0006.

#	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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