U.S. flag

An official website of the United States government

NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg) AND Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 8, 2024
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:
RCV003889368.2

Allele description [Variation Report for NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)]

NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)

Gene:
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)
HGVS:
  • NC_000012.12:g.2457680C>G
  • NG_008801.2:g.491895C>G
  • NM_000719.7:c.731C>GMANE SELECT
  • NM_001129827.2:c.731C>G
  • NM_001129829.2:c.731C>G
  • NM_001129830.3:c.731C>G
  • NM_001129831.2:c.731C>G
  • NM_001129832.2:c.731C>G
  • NM_001129833.2:c.731C>G
  • NM_001129834.2:c.731C>G
  • NM_001129835.2:c.731C>G
  • NM_001129836.2:c.731C>G
  • NM_001129837.2:c.731C>G
  • NM_001129838.2:c.731C>G
  • NM_001129839.2:c.731C>G
  • NM_001129840.2:c.731C>G
  • NM_001129841.2:c.731C>G
  • NM_001129842.2:c.731C>G
  • NM_001129843.2:c.731C>G
  • NM_001129844.2:c.731C>G
  • NM_001129846.2:c.731C>G
  • NM_001167623.2:c.731C>G
  • NM_001167624.3:c.731C>G
  • NM_001167625.2:c.731C>G
  • NM_199460.4:c.731C>G
  • NP_000710.5:p.Pro244Arg
  • NP_000710.5:p.Pro244Arg
  • NP_001123299.1:p.Pro244Arg
  • NP_001123299.1:p.Pro244Arg
  • NP_001123301.1:p.Pro244Arg
  • NP_001123302.1:p.Pro244Arg
  • NP_001123302.2:p.Pro244Arg
  • NP_001123303.1:p.Pro244Arg
  • NP_001123304.1:p.Pro244Arg
  • NP_001123305.1:p.Pro244Arg
  • NP_001123306.1:p.Pro244Arg
  • NP_001123307.1:p.Pro244Arg
  • NP_001123308.1:p.Pro244Arg
  • NP_001123309.1:p.Pro244Arg
  • NP_001123310.1:p.Pro244Arg
  • NP_001123311.1:p.Pro244Arg
  • NP_001123312.1:p.Pro244Arg
  • NP_001123312.1:p.Pro244Arg
  • NP_001123313.1:p.Pro244Arg
  • NP_001123314.1:p.Pro244Arg
  • NP_001123315.1:p.Pro244Arg
  • NP_001123316.1:p.Pro244Arg
  • NP_001123318.1:p.Pro244Arg
  • NP_001161095.1:p.Pro244Arg
  • NP_001161096.2:p.Pro244Arg
  • NP_001161097.1:p.Pro244Arg
  • NP_955630.3:p.Pro244Arg
  • LRG_334t1:c.731C>G
  • LRG_334t2:c.731C>G
  • LRG_334t3:c.731C>G
  • LRG_334t4:c.731C>G
  • LRG_334:g.491895C>G
  • LRG_334p1:p.Pro244Arg
  • LRG_334p2:p.Pro244Arg
  • LRG_334p3:p.Pro244Arg
  • LRG_334p4:p.Pro244Arg
  • NC_000012.11:g.2566846C>G
  • NM_000719.6:c.731C>G
  • NM_001129827.1:c.731C>G
  • NM_001129830.1:c.731C>G
  • NM_001129840.1:c.731C>G
Protein change:
P244R
Molecular consequence:
  • NM_000719.7:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.731C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS)
Identifiers:
MONDO: MONDO:0859286; MedGen: C5774213; OMIM: 620029

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
SCV004704614Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 8, 2024) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot 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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004704614.1

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

Last Updated: Jun 23, 2024