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NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) AND Intellectual disability, autosomal dominant 13

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV003223402.2

Allele description

NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)

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.6994C>T (p.Arg2332Cys)
HGVS:
  • NC_000014.9:g.102012450C>T
  • NG_008777.1:g.52923C>T
  • NM_001376.5:c.6994C>TMANE SELECT
  • NP_001367.2:p.Arg2332Cys
  • NC_000014.8:g.102478787C>T
  • NM_001376.4:c.6994C>T
Protein change:
R2332C
Links:
dbSNP: rs1057518961
NCBI 1000 Genomes Browser:
rs1057518961
Molecular consequence:
  • NM_001376.5:c.6994C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 13 (CDCBM13)
Synonyms:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13
Identifiers:
MONDO: MONDO:0013805; MedGen: C3281202; OMIM: 614563

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919013Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2023) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, et al.

Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15.

PubMed [citation]
PMID:
25590979
PMCID:
PMC4791490

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 Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025