U.S. flag

An official website of the United States government

NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001959010.6

Allele description [Variation Report for NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)]

NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)

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.769C>T (p.Arg257Ter)
HGVS:
  • NC_000008.11:g.115619329G>A
  • NG_012383.3:g.54673C>T
  • NM_001282902.3:c.742C>T
  • NM_001282903.3:c.748C>T
  • NM_001330599.2:c.730C>T
  • NM_014112.5:c.769C>TMANE SELECT
  • NP_001269831.1:p.Arg248Ter
  • NP_001269832.1:p.Arg250Ter
  • NP_001317528.1:p.Arg244Ter
  • NP_054831.2:p.Arg257Ter
  • NC_000008.10:g.116631556G>A
  • NM_014112.4:c.769C>T
Protein change:
R244*
Links:
dbSNP: rs2130531352
NCBI 1000 Genomes Browser:
rs2130531352
Molecular consequence:
  • NM_001282902.3:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282903.3:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330599.2:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014112.5:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Trichorhinophalangeal syndrome, type III (TRPS3)
Synonyms:
Trichorhinophalangeal syndrome type 3; TRPS 3; Sugio-Kajii Syndrome
Identifiers:
MONDO: MONDO:0008597; MedGen: C1860823; Orphanet: 77258; OMIM: 190351
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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243264Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 2, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.

Farooq M, Fujikawa H, Fujimoto A, Kubo Y, Ito M, Shimomura Y.

Int J Dermatol. 2014 Aug;53(8):1012-5. doi: 10.1111/j.1365-4632.2012.05694.x. Epub 2013 Apr 28. No abstract available.

PubMed [citation]
PMID:
23621477

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, et al.

Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7.

PubMed [citation]
PMID:
11112658
PMCID:
PMC1234936
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243264.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with trichorhinophalangeal syndrome (PMID: 23621477). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg257*) in the TRPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024