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NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) AND Asphyxiating thoracic dystrophy 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2015
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:
RCV000500337.1

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)]

NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)

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.1953G>A (p.Lys651=)
HGVS:
  • NC_000011.10:g.103129005G>A
  • NG_016423.2:g.24575G>A
  • NM_001080463.2:c.1953G>A
  • NM_001377.3:c.1953G>AMANE SELECT
  • NP_001073932.1:p.Lys651=
  • NP_001368.2:p.Lys651=
  • NC_000011.9:g.102999734G>A
  • NG_016423.1:g.24575G>A
  • NM_001080463.1:c.1953G>A
  • NM_001377.2:c.1953G>A
  • p.Lys651Lys
Links:
dbSNP: rs1178331074
NCBI 1000 Genomes Browser:
rs1178331074
Molecular consequence:
  • NM_001080463.2:c.1953G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001377.3:c.1953G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000598131Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(MacArthur et al. (Nature 2014))		Pathogenic
(Feb 24, 2015) 		maternalclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Guidelines for investigating causality of sequence variants in human disease.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, et al.

Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127.

PubMed [citation]
PMID:
24759409
PMCID:
PMC4180223

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000598131.1

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

Description

This heterozygous variant in the DYNC2H1 gene (autosomal recessive transmission), inherited from the mother, was present in a foetus who also harbours a second variant in the same gene inherited by the father (compound heterozygosity).

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

Last Updated: Sep 29, 2024