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NM_001377.3(DYNC2H1):c.1360+2del AND DYNC2H1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 28, 2023
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:
RCV003407669.4

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.1360+2del]

NM_001377.3(DYNC2H1):c.1360+2del

Gene:
DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_001377.3(DYNC2H1):c.1360+2del
HGVS:
  • NC_000011.10:g.103121038del
  • NG_016423.2:g.16608del
  • NM_001080463.2:c.1360+2del
  • NM_001377.3:c.1360+2delMANE SELECT
  • NC_000011.9:g.102991767del
  • NM_001080463.1:c.1360+2del
  • NM_001080463.1:c.1360+2delT
Links:
dbSNP: rs780539887
NCBI 1000 Genomes Browser:
rs780539887
Molecular consequence:
  • NM_001080463.2:c.1360+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001377.3:c.1360+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
DYNC2H1-related disorder
Synonyms:
DYNC2H1-related condition; DYNC2H1-Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004110908PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 28, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 PreventionGenetics, part of Exact Sciences, SCV004110908.1

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

Description

The DYNC2H1 c.1360+2delT variant is predicted to result in a deletion affecting a canonical splice site. This variant was reported in the compound heterozygous state in an individual with short rib-polydactyly syndrome, type 3 (Table S2, Zhang et al. 2018. PubMed ID: 29068549). This variant is reported in 0.0019% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-102991766-GT-G). This variant is interpreted as likely pathogenic.

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

Last Updated: Nov 24, 2024