NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) AND Autism spectrum disorder due to AUTS2 deficiency

Germline classification:: Pathogenic (1 submission)
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:: RCV003330082.1

Allele description [Variation Report for NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)]

NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)

Other names:

NM_000540.2(RYR1):c.742G>C

HGVS:

NC_000019.10:g.38446710G>C
NG_008866.1:g.18011G>C
NM_000540.3:c.742G>CMANE SELECT
NM_001042723.2:c.742G>C
NP_000531.2:p.Gly248Arg
NP_000531.2:p.Gly248Arg
NP_001036188.1:p.Gly248Arg
LRG_766t1:c.742G>C
LRG_766:g.18011G>C
LRG_766p1:p.Gly248Arg
NC_000019.9:g.38937350G>C
NM_000540.2:c.742G>C
P21817:p.Gly248Arg
p.(Gly248Arg)

Protein change:

G248R

Links:

UniProtKB: P21817#VAR_005591; dbSNP: rs1801086

NCBI 1000 Genomes Browser:

rs1801086

Molecular consequence:

NM_000540.3:c.742G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.742G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autism spectrum disorder due to AUTS2 deficiency (MRD26)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26
Identifiers:: MONDO: MONDO:0014361; MedGen: C4014435; Orphanet: 352490; OMIM: 615834

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004037136	Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004037136

Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

not provided

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	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV004037136.1

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

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

Last Updated: Apr 15, 2024

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