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NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 22, 2015
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:
RCV000415081.2

Allele description [Variation Report for NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)]

NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)

Gene:
ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)
Other names:
p.R141W:CGG>TGG
HGVS:
  • NC_000022.11:g.40354266C>T
  • NG_007993.2:g.12767C>T
  • NM_000026.4:c.421C>TMANE SELECT
  • NM_001123378.3:c.421C>T
  • NM_001317923.2:c.229C>T
  • NM_001363840.3:c.421C>T
  • NP_000017.1:p.Arg141Trp
  • NP_001116850.1:p.Arg141Trp
  • NP_001304852.1:p.Arg77Trp
  • NP_001350769.1:p.Arg141Trp
  • NC_000022.10:g.40750270C>T
  • NM_000026.2:c.421C>T
  • NR_134256.2:n.480C>T
  • P30566:p.Arg141Trp
Protein change:
R141W
Links:
UniProtKB: P30566#VAR_007973; dbSNP: rs756210458
NCBI 1000 Genomes Browser:
rs756210458
Molecular consequence:
  • NM_000026.4:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123378.3:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317923.2:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363840.3:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134256.2:n.480C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Generalized myoclonic seizure
Synonyms:
Generalized myoclonic seizures
Identifiers:
MedGen: C4021759; Human Phenotype Ontology: HP:0002123
Name:
Progressive neurologic deterioration
Identifiers:
MedGen: C1854838; Human Phenotype Ontology: HP:0002344
Name:
Inability to walk
Identifiers:
MedGen: C0560046; Human Phenotype Ontology: HP:0002540
Name:
Difficulty standing
Identifiers:
MedGen: C0241237; Human Phenotype Ontology: HP:0003698
Name:
Severe global developmental delay
Synonyms:
Severe psychomotor retardation
Identifiers:
MedGen: C1837397; Human Phenotype Ontology: HP:0011344

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492859Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 22, 2015)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492859.1

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

Last Updated: Jun 23, 2024