NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser) AND Intellectual disability, autosomal dominant 13

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2022
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:: RCV002267563.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser)]

NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser)

Genes:

LOC126862060:BRD4-independent group 4 enhancer GRCh37_chr14:102493659-102494858 [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.9055G>A (p.Gly3019Ser)

HGVS:

NC_000014.9:g.102027625G>A
NG_008777.1:g.68098G>A
NM_001376.5:c.9055G>AMANE SELECT
NP_001367.2:p.Gly3019Ser
NC_000014.8:g.102493962G>A

Protein change:

G3019S

Links:

dbSNP: rs2152589131

NCBI 1000 Genomes Browser:

rs2152589131

Molecular consequence:

NM_001376.5:c.9055G>A - 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
SCV002522321	Laboratory of Human Genetics, Universidade de São Paulo	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 13, 2022)	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

SCV002522321

Laboratory of Human Genetics, Universidade de São Paulo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 13, 2022)

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

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 Laboratory of Human Genetics, Universidade de São Paulo, SCV002522321.1

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

Description

This variant meets our criteria to be classified as likely pathogenic based upon segregation studies, absence from controls, and in-silico evaluation of pathogenicity.

#	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: Dec 24, 2023

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