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NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000162149.11

Allele description [Variation Report for NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)]

NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)

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.6617C>T (p.Thr2206Met)
Other names:
NM_000540.3(RYR1):c.6617C>T
HGVS:
  • NC_000019.10:g.38496283C>T
  • NG_008866.1:g.67584C>T
  • NM_000540.3:c.6617C>TMANE SELECT
  • NM_001042723.2:c.6617C>T
  • NP_000531.2:p.Thr2206Met
  • NP_000531.2:p.Thr2206Met
  • NP_001036188.1:p.Thr2206Met
  • LRG_766t1:c.6617C>T
  • LRG_766:g.67584C>T
  • LRG_766p1:p.Thr2206Met
  • NC_000019.9:g.38986923C>T
  • NM_000540.2:c.6617C>T
  • NM_000540.3:c.6617C>T
  • P21817:p.Thr2206Met
  • p.(Thr2206Met)
Protein change:
T2206M; THR2206MET
Links:
UniProtKB: P21817#VAR_005604; OMIM: 180901.0014; dbSNP: rs118192177
NCBI 1000 Genomes Browser:
rs118192177
Molecular consequence:
  • NM_000540.3:c.6617C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.6617C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ptosis
Synonyms:
Ptosis (disease)
Identifiers:
MONDO: MONDO:0000728; MedGen: C0005745; Human Phenotype Ontology: HP:0000508
Name:
Absence of the sacrum
Synonyms:
Sacral agenesis; Agenesis of sacrum
Identifiers:
MedGen: C0344490; Human Phenotype Ontology: HP:0010305
Name:
History of neonatal hypotonia
Identifiers:
MedGen: CN228299

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196435Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided

(research)		Likely pathogenic
(Dec 1, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25558065

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000196435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024