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NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter) AND Brachydactyly type C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2008
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:
RCV000008899.3

Allele description [Variation Report for NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)]

NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)

Genes:
GDF5-AS1:GDF5 antisense RNA 1 [Gene - HGNC]
GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.22
Genomic location:
Preferred name:
NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)
HGVS:
  • NC_000020.11:g.35433954A>C
  • NG_008076.3:g.25793T>G
  • NM_000557.5:c.1461T>GMANE SELECT
  • NM_001319138.2:c.1461T>G
  • NP_000548.2:p.Tyr487Ter
  • NP_001306067.1:p.Tyr487Ter
  • NC_000020.10:g.34021752A>C
  • NR_161326.1:n.238A>C
Protein change:
Y487*; TYR487TER
Links:
OMIM: 601146.0016; dbSNP: rs121909348
NCBI 1000 Genomes Browser:
rs121909348
Molecular consequence:
  • NR_161326.1:n.238A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000557.5:c.1461T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319138.2:c.1461T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Brachydactyly type C (BDC)
Synonyms:
Brachydactyly Haws type
Identifiers:
MONDO: MONDO:0007221; MedGen: C1862103; Orphanet: 93384; OMIM: 113100; Human Phenotype Ontology: HP:0009373

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029109OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, Wang S, Lo WHY, Luo Y, Zhang X.

J Hum Genet. 2008;53(4):368-374. doi: 10.1007/s10038-008-0253-7. Epub 2008 Feb 19.

PubMed [citation]
PMID:
18283415

Details of each submission

From OMIM, SCV000029109.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a large 4-generation Han Chinese family segregating autosomal dominant brachydactyly type C (BDC; 113100), Yang et al. (2008) identified heterozygosity for a 1461T-G transversion in the GDF5 gene, resulting in a tyr487-to-ter (Y487X) substitution predicted to truncate the GDF5 precursor polypeptide by 15 amino acids, deleting 2 of 7 C-terminal cysteine residues. The mutation was not detected in an unaffected family member or in 50 controls.

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

Last Updated: Apr 23, 2022