U.S. flag

An official website of the United States government

NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) AND Congenital myopathy 18

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003458381.1

Allele description [Variation Report for NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)]

NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)

Gene:
CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)
HGVS:
  • NC_000001.11:g.201040054A>G
  • NG_009816.2:g.77513T>C
  • NM_000069.3:c.5399T>CMANE SELECT
  • NP_000060.2:p.Leu1800Ser
  • NC_000001.10:g.201009182A>G
  • NG_009816.1:g.77513T>C
  • NM_000069.2:c.5399T>C
  • Q13698:p.Leu1800Ser
Protein change:
L1800S
Links:
UniProtKB: Q13698#VAR_046972; dbSNP: rs12139527
NCBI 1000 Genomes Browser:
rs12139527
Molecular consequence:
  • NM_000069.3:c.5399T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myopathy 18
Synonyms:
DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY; DHPR CONGENITAL MYOPATHY; Myopathy, congenital, due to dihydropyridine receptor defect
Identifiers:
MONDO: MONDO:0859514; MedGen: C5830283; OMIM: 620246

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
SCV004180972Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Apr 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV004180972.1

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

Last Updated: Sep 29, 2024