U.S. flag

An official website of the United States government

NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 21, 2016
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:
RCV000678045.3

Allele description [Variation Report for NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)]

NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)

Gene:
CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)
HGVS:
  • NC_000010.11:g.73842486C>G
  • NG_029408.2:g.37106G>C
  • NM_001204492.2:c.875G>C
  • NM_001222.4:c.875G>C
  • NM_001320898.2:c.875G>C
  • NM_001367514.1:c.851G>C
  • NM_001367516.1:c.875G>C
  • NM_001367517.1:c.875G>C
  • NM_001367518.1:c.875G>C
  • NM_001367519.1:c.875G>C
  • NM_001367520.1:c.875G>C
  • NM_001367521.1:c.875G>C
  • NM_001367522.1:c.875G>C
  • NM_001367523.1:c.875G>C
  • NM_001367524.1:c.629G>C
  • NM_001367525.1:c.851G>C
  • NM_001367526.1:c.875G>C
  • NM_001367527.1:c.875G>C
  • NM_001367528.1:c.875G>C
  • NM_001367529.1:c.875G>C
  • NM_001367530.1:c.875G>C
  • NM_001367531.1:c.875G>C
  • NM_001367532.1:c.851G>C
  • NM_001367533.1:c.875G>C
  • NM_001367534.1:c.875G>CMANE SELECT
  • NM_001367535.1:c.875G>C
  • NM_001367536.1:c.875G>C
  • NM_001367537.1:c.563G>C
  • NM_001367538.1:c.563G>C
  • NM_001367539.1:c.629G>C
  • NM_001367540.1:c.209G>C
  • NM_001367541.1:c.875G>C
  • NM_001367542.1:c.122G>C
  • NM_001367543.1:c.875G>C
  • NM_001367544.1:c.875G>C
  • NM_001367545.1:c.875G>C
  • NM_001367546.1:c.875G>C
  • NM_001367547.1:c.875G>C
  • NM_001367548.1:c.875G>C
  • NM_172169.3:c.875G>C
  • NM_172170.5:c.875G>C
  • NM_172171.3:c.875G>C
  • NM_172173.3:c.875G>C
  • NP_001191421.1:p.Arg292Pro
  • NP_001213.2:p.Arg292Pro
  • NP_001307827.1:p.Arg292Pro
  • NP_001354443.1:p.Arg284Pro
  • NP_001354445.1:p.Arg292Pro
  • NP_001354446.1:p.Arg292Pro
  • NP_001354447.1:p.Arg292Pro
  • NP_001354448.1:p.Arg292Pro
  • NP_001354449.1:p.Arg292Pro
  • NP_001354450.1:p.Arg292Pro
  • NP_001354451.1:p.Arg292Pro
  • NP_001354452.1:p.Arg292Pro
  • NP_001354453.1:p.Arg210Pro
  • NP_001354454.1:p.Arg284Pro
  • NP_001354455.1:p.Arg292Pro
  • NP_001354456.1:p.Arg292Pro
  • NP_001354457.1:p.Arg292Pro
  • NP_001354458.1:p.Arg292Pro
  • NP_001354459.1:p.Arg292Pro
  • NP_001354460.1:p.Arg292Pro
  • NP_001354461.1:p.Arg284Pro
  • NP_001354462.1:p.Arg292Pro
  • NP_001354463.1:p.Arg292Pro
  • NP_001354464.1:p.Arg292Pro
  • NP_001354465.1:p.Arg292Pro
  • NP_001354466.1:p.Arg188Pro
  • NP_001354467.1:p.Arg188Pro
  • NP_001354468.1:p.Arg210Pro
  • NP_001354469.1:p.Arg70Pro
  • NP_001354470.1:p.Arg292Pro
  • NP_001354471.1:p.Arg41Pro
  • NP_001354472.1:p.Arg292Pro
  • NP_001354473.1:p.Arg292Pro
  • NP_001354474.1:p.Arg292Pro
  • NP_001354475.1:p.Arg292Pro
  • NP_001354476.1:p.Arg292Pro
  • NP_001354477.1:p.Arg292Pro
  • NP_751909.1:p.Arg292Pro
  • NP_751910.1:p.Arg292Pro
  • NP_751911.1:p.Arg292Pro
  • NP_751911.1:p.Arg292Pro
  • NP_751913.1:p.Arg292Pro
  • NC_000010.10:g.75602244C>G
  • NM_001367534.1:c.875G>C
  • NM_172171.2:c.875G>C
  • NR_160040.1:n.969G>C
  • NR_160041.1:n.945G>C
  • NR_160042.1:n.914G>C
  • NR_160044.1:n.965G>C
  • NR_160045.1:n.874G>C
  • NR_160046.1:n.1413G>C
  • NR_160047.1:n.1099G>C
  • NR_160263.1:n.982G>C
Protein change:
R188P; ARG292PRO
Links:
OMIM: 602123.0001; dbSNP: rs397514627
NCBI 1000 Genomes Browser:
rs397514627
Molecular consequence:
  • NM_001204492.2:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001222.4:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320898.2:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367514.1:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367516.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367517.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367518.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367519.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367520.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367521.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367522.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367523.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367524.1:c.629G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367525.1:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367526.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367527.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367528.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367529.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367530.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367531.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367532.1:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367533.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367534.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367535.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367536.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367537.1:c.563G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367538.1:c.563G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367539.1:c.629G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367540.1:c.209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367541.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367542.1:c.122G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367543.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367544.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367545.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367546.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367547.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367548.1:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172169.3:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172170.5:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172171.3:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172173.3:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160040.1:n.969G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160041.1:n.945G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160042.1:n.914G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160044.1:n.965G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160045.1:n.874G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160046.1:n.1413G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160047.1:n.1099G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160263.1:n.982G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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
SCV000803661Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 21, 2016) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV000803661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Parental studies indicated that this alteration is de novo in this individual. This alteration has been previously reported in the Human Gene Mutation Database and is associated with sporadic global developmental delay, hypotonia, and speech delay (GeneMatcher communication and de Ligt et al. (2012) N. Engl. J. Med. 367(20):1921-1929). This variant is not listed in the public SNP databases (ExAC, gnomAD) and is predicted to be deleterious or possibly damaging by multiple in silico algorithms (LRT, SIFT, PROVEAN, PolyPhen2-HumDiv). Based on the ACMG Guidelines for variant interpretation, using the criteria PS2, PS4 (downgraded to moderate), PM2, and PP3, this variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024