U.S. flag

An official website of the United States government

NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV000995250.23

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp)]

NM_001376.5(DYNC1H1):c.1998A>T (p.Glu666Asp)

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.1998A>T (p.Glu666Asp)
HGVS:
  • NC_000014.9:g.101986223A>T
  • NG_008777.1:g.26696A>T
  • NM_001376.5:c.1998A>TMANE SELECT
  • NP_001367.2:p.Glu666Asp
  • NC_000014.8:g.102452560A>T
Protein change:
E666D
Links:
dbSNP: rs1595600991
NCBI 1000 Genomes Browser:
rs1595600991
Molecular consequence:
  • NM_001376.5:c.1998A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001149331CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Jan 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001149331.27

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 20, 2024