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NM_004147.4(DRG1):c.118C>T (p.Arg40Ter) AND Flexion contracture

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001007813.1

Allele description [Variation Report for NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)]

NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)

Gene:
DRG1:developmentally regulated GTP binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)
HGVS:
  • NC_000022.11:g.31400695C>T
  • NM_004147.4:c.118C>TMANE SELECT
  • NP_004138.1:p.Arg40Ter
  • NC_000022.10:g.31796681C>T
  • NM_004147.3:c.118C>T
Protein change:
R40*
Links:
dbSNP: rs1391978939
NCBI 1000 Genomes Browser:
rs1391978939
Molecular consequence:
  • NM_004147.4:c.118C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Flexion contracture
Synonyms:
Contracture; Contractures; Flexion deformity
Identifiers:
MedGen: C0333068; Human Phenotype Ontology: HP:0001371

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167504Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Likely pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesresearchnot provided

Description

Three genes were thought to be involved in this individual's phenotype includning homozygous DRG1 c.118C>T, homozygous TANC1 c.2830C>T and hemizygous BRWD3 c.592-3TC variants

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Jul 16, 2023