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NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) AND Inborn genetic diseases

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
May 21, 2024
Review status:
no classifications from unflagged records
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:
RCV002372705.3

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)]

NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)

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.874C>T (p.Arg292Trp)
Other names:
DYNC1H
HGVS:
  • NC_000014.9:g.101980463C>T
  • NG_008777.1:g.20936C>T
  • NM_001376.5:c.874C>TMANE SELECT
  • NP_001367.2:p.Arg292Trp
  • NC_000014.8:g.102446800C>T
  • NC_000014.8:g.102446800C>T
  • NM_001376.4:c.874C>T
Protein change:
R292W
Links:
dbSNP: rs2047850664
NCBI 1000 Genomes Browser:
rs2047850664
Molecular consequence:
  • NM_001376.5:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002685081.2

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

Description

The p.R292W variant (also known as c.874C>T), located in coding exon 5 of the DYNC1H1 gene, results from a C to T substitution at nucleotide position 874. The arginine at codon 292 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002685081Ambry Genetics
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 22, 2018) 		germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024