NM_001376.5(DYNC1H1):c.9264-8T>G AND none provided

Clinical significance:Uncertain significance (Last evaluated: Mar 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285840.2

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.9264-8T>G]

NM_001376.5(DYNC1H1):c.9264-8T>G

Gene:
DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.31
Genomic location:
Preferred name:
NM_001376.5(DYNC1H1):c.9264-8T>G
HGVS:
  • NC_000014.9:g.102027929T>G
  • NG_008777.1:g.68402T>G
  • NM_001376.5:c.9264-8T>GMANE SELECT
  • NC_000014.8:g.102494266T>G
  • NM_001376.4:c.9264-8T>G
Links:
dbSNP: rs368432468
NCBI 1000 Genomes Browser:
rs368432468
Molecular consequence:
  • NM_001376.5:c.9264-8T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472341ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Mar 13, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472341.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The DYNC1H1 c.9264-8T>G variant (rs368432468), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 286522). This variant is found in the African population with an allele frequency of 0.46% (115/24966 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of the c.9264-8T>G variant is uncertain at this time.

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

Last Updated: Nov 27, 2021

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