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NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) AND Asphyxiating thoracic dystrophy 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 7, 2016
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:
RCV000755105.1

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)]

NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)

Gene:
DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)
HGVS:
  • NC_000011.10:g.103181796G>T
  • NG_016423.2:g.77366G>T
  • NM_001080463.2:c.6387G>T
  • NM_001377.3:c.6387G>TMANE SELECT
  • NP_001073932.1:p.Trp2129Cys
  • NP_001368.2:p.Trp2129Cys
  • NC_000011.9:g.103052525G>T
  • NG_016423.1:g.77366G>T
  • NM_001377.2:c.6387G>T
Protein change:
W2129C
Links:
dbSNP: rs1332318318
NCBI 1000 Genomes Browser:
rs1332318318
Molecular consequence:
  • NM_001080463.2:c.6387G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377.3:c.6387G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Asphyxiating thoracic dystrophy 3
Synonyms:
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; Short rib polydactyly syndrome 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013127; MedGen: C0036069; Orphanet: 474; Orphanet: 93269; Orphanet: 93271; OMIM: 613091

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882925University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenic
(Dec 7, 2016) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Badiner N, Taylor SP, Forlenza K, Lachman RS; University of Washington Center for Mendelian Genomics., Bamshad M, Nickerson D, Cohn DH, Krakow D.

Clin Genet. 2017 Aug;92(2):158-165. doi: 10.1111/cge.12947. Epub 2017 Mar 13.

PubMed [citation]
PMID:
27925158
PMCID:
PMC5538819

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2023