U.S. flag

An official website of the United States government

NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 2014
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:
RCV000415011.10

Allele description [Variation Report for NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)]

NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)

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.2794G>A (p.Ala932Thr)
HGVS:
  • NC_000008.11:g.115418359C>T
  • NG_012383.3:g.255643G>A
  • NM_001282902.3:c.2767G>A
  • NM_001282903.3:c.2773G>A
  • NM_001330599.2:c.2755G>A
  • NM_014112.5:c.2794G>AMANE SELECT
  • NP_001269831.1:p.Ala923Thr
  • NP_001269832.1:p.Ala925Thr
  • NP_001317528.1:p.Ala919Thr
  • NP_054831.2:p.Ala932Thr
  • NC_000008.10:g.116430587C>T
  • NM_014112.2:c.2794G>A
  • NM_014112.4:c.2794G>A
Protein change:
A919T
Links:
dbSNP: rs1057518972
NCBI 1000 Genomes Browser:
rs1057518972
Molecular consequence:
  • NM_001282902.3:c.2767G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282903.3:c.2773G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330599.2:c.2755G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014112.5:c.2794G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brachydactyly
Synonyms:
Brachydactyly syndrome; Brachydactyly (disease)
Identifiers:
MONDO: MONDO:0021004; MedGen: C0221357; Human Phenotype Ontology: HP:0001156
Name:
Alopecia areata
Identifiers:
MONDO: MONDO:0005340; MedGen: C0002171
Name:
Pear-shaped nose
Identifiers:
MedGen: C1853482; Human Phenotype Ontology: HP:0000447
Name:
Proportionate short stature
Identifiers:
MedGen: C0878660; Human Phenotype Ontology: HP:0003508

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
SCV000493042Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 17, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000493042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024