NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) AND Intellectual disability, autosomal dominant 13

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 19, 2015
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:: RCV000191046.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)]

NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)

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.1706G>C (p.Arg569Pro)

HGVS:

NC_000014.9:g.101985931G>C
NG_008777.1:g.26404G>C
NM_001376.5:c.1706G>CMANE SELECT
NP_001367.2:p.Arg569Pro
NC_000014.8:g.102452268G>C
NM_001376.4:c.1706G>C

Protein change:

R569P

Links:

dbSNP: rs797045178

NCBI 1000 Genomes Browser:

rs797045178

Molecular consequence:

NM_001376.5:c.1706G>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246120	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Pathogenic (May 19, 2015)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246120

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Pathogenic
(May 19, 2015)

de novo

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, et al.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

PubMed [citation]

PMID:: 25140959
PMCID:: PMC4274952

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000246120.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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