NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) AND Trichorhinophalangeal dysplasia type I

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 24, 2017
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:: RCV000005912.2

Allele description

NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)

Gene:

TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q23.3

Genomic location:

Preferred name:

NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)

HGVS:

NC_000008.11:g.115604099G>A
NG_012383.3:g.69903C>T
NM_001282902.3:c.1843C>T
NM_001282903.3:c.1849C>T
NM_001330599.2:c.1831C>T
NM_014112.5:c.1870C>T
NP_001269831.1:p.Arg615Ter
NP_001269832.1:p.Arg617Ter
NP_001317528.1:p.Arg611Ter
NP_054831.2:p.Arg624Ter
NP_054831.2:p.Arg624Ter
NP_054831.2:p.Arg624Ter
NP_054831.2:p.Arg624Ter
NC_000008.10:g.116616326G>A
NM_014112.2:c.1870C>T
NM_014112.4:c.1870C>T

Protein change:

R615*; ARG624TER

Links:

OMIM: 604386.0002; dbSNP: rs121908431

NCBI 1000 Genomes Browser:

rs121908431

Molecular consequence:

NM_001282902.3:c.1843C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282903.3:c.1849C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330599.2:c.1831C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014112.5:c.1870C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Trichorhinophalangeal dysplasia type I (TRPS1)
Synonyms:: TRPS I; Trichorhinophalangeal Syndrome Type I
Identifiers:: MedGen: C0432233; Orphanet: 77258; OMIM: 190350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026094	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000599564	GeneReviews	no assertion criteria provided	Pathogenic (Jan 24, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026094

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2000)

germline

literature only

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

SCV000599564

GeneReviews

no assertion criteria provided

Pathogenic
(Jan 24, 2017)

germline

literature only

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

Citation Link

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

Citations

PubMed

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ.

Nat Genet. 2000 Jan;24(1):71-4.

PubMed [citation]

PMID:: 10615131

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, et al.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PubMed [citation]

PMID:: 25792522

Details of each submission

From OMIM, SCV000026094.1

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

Description

Based on a renumbering of the TRPS1 gene sequence, the mutation originally referred to as ARG611TER (R611X) has been changed to ARG624TER (R624X).

In a familial case of type I TRPS (190350), Momeni et al. (2000) found an 1831C-T transition in exon 4 of the TRPS1 gene, causing a nonsense mutation, arg611 to ter.

#	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

From GeneReviews, SCV000599564.1

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

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

Last Updated: Aug 26, 2019

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