NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) 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:: RCV000005922.2

Allele description

NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)

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.2894G>A (p.Arg965His)

HGVS:

NC_000008.11:g.115415014C>T
NG_012383.3:g.258988G>A
NM_001282902.3:c.2867G>A
NM_001282903.3:c.2873G>A
NM_001330599.2:c.2855G>A
NM_014112.5:c.2894G>AMANE SELECT
NP_001269831.1:p.Arg956His
NP_001269832.1:p.Arg958His
NP_001317528.1:p.Arg952His
NP_054831.2:p.Arg965His
NC_000008.10:g.116427242C>T
NM_014112.4:c.2894G>A

Protein change:

R952H; ARG952HIS

Links:

OMIM: 604386.0012; dbSNP: rs28939070

NCBI 1000 Genomes Browser:

rs28939070

Molecular consequence:

NM_001282902.3:c.2867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282903.3:c.2873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330599.2:c.2855G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014112.5:c.2894G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Trichorhinophalangeal dysplasia type I (TRPS1)
Synonyms:: TRPS I; Trichorhinophalangeal syndrome type 1; Giedion syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008596; MedGen: C0432233; Orphanet: 77258; OMIM: 190350

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026104	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000599590	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

SCV000026104

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2004)

germline

literature only

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

SCV000599590

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

Citations

PubMed

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Kaiser FJ, Brega P, Raff ML, Byers PH, Gallati S, Kay TT, de Almeida S, Horsthemke B, Lüdecke HJ.

Eur J Hum Genet. 2004 Feb;12(2):121-6.

PubMed [citation]

PMID:: 14560312

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, SCV000026104.1

#	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 ARG952HIS (R952H) has been changed to ARG965HIS (R965H).

In a woman from Switzerland and in affected members of 4 generations of a U.S. family with TRPS I (190350), Kaiser et al. (2004) identified heterozygosity for a 2855G-A transition in the TRPS1 gene, resulting in an arg952-to-his (R952H) substitution. The mutation prevents the transport of the TRPS1 protein into the nucleus and thus reduces the nuclear TRPS1 concentration, consistent with haploinsufficiency.

#	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, SCV000599590.1

#	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: Jun 18, 2022

ClinVar

Relating variation to medicine