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NM_001377.3(DYNC2H1):c.10042+2T>G AND Autosomal recessive polycystic kidney disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2018
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:
RCV001328199.8

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.10042+2T>G]

NM_001377.3(DYNC2H1):c.10042+2T>G

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.10042+2T>G
HGVS:
  • NC_000011.10:g.103245376T>G
  • NG_016423.2:g.140946T>G
  • NM_001080463.2:c.10063+2T>G
  • NM_001377.3:c.10042+2T>GMANE SELECT
  • NC_000011.9:g.103116105T>G
  • NM_001080463.1:c.10063+2T>G
Links:
dbSNP: rs1261505725
NCBI 1000 Genomes Browser:
rs1261505725
Molecular consequence:
  • NM_001080463.2:c.10063+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001377.3:c.10042+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Autosomal recessive polycystic kidney disease (ARPKD)
Synonyms:
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449317Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Jul 6, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is heterozygous for the c.10063+2T>G variant in the DYNC2H1 gene. To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. However, this variant has been submitted as pathogenic on ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/446536/). This variant has been reported in the gnomAD browser (http://gnomad.broadinstitute.org) with a very low allele frequency of 0.0013% (3 out of 227,450 alleles). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) predicts that this variant abolishes the splice donor site. This variant is considered to be pathogenic according to the ACMG guidelines.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024