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NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
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:
RCV000490925.1

Allele description [Variation Report for NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)]

NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)

Gene:
MYO5A:myosin VA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)
HGVS:
  • NC_000015.10:g.52340235G>C
  • NG_009887.1:g.193816C>G
  • NM_000259.3:c.4200C>G
  • NM_001142495.2:c.4119C>G
  • NM_001382347.1:c.4200C>GMANE SELECT
  • NM_001382348.1:c.4272C>G
  • NM_001382349.1:c.4272C>G
  • NP_000250.3:p.Ser1400Arg
  • NP_001135967.2:p.Ser1373Arg
  • NP_001369276.1:p.Ser1400Arg
  • NP_001369277.1:p.Ser1424Arg
  • NP_001369278.1:p.Ser1424Arg
  • LRG_86t1:c.4200C>G
  • LRG_86:g.193816C>G
  • LRG_86p1:p.Ser1400Arg
  • NC_000015.9:g.52632432G>C
Protein change:
S1373R
Links:
dbSNP: rs1114167290
NCBI 1000 Genomes Browser:
rs1114167290
Molecular consequence:
  • NM_000259.3:c.4200C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142495.2:c.4119C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382347.1:c.4200C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382348.1:c.4272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382349.1:c.4272C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dystonic disorder
Synonyms:
Dystonia
Identifiers:
MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Nystagmus
Identifiers:
MONDO: MONDO:0004843; MedGen: C0028738; Human Phenotype Ontology: HP:0000639
Name:
Cerebellar cortical atrophy
Identifiers:
MedGen: C4024710; Human Phenotype Ontology: HP:0008278

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282200Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Pathogenic
(Jan 10, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednoresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024