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NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Dec 16, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000186711.4

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240277GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Dec 16, 2022)
germlineclinical testing

Citation Link,

SCV001760574Laboratoire Génétique Moléculaire, CHRU TOURS
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 31, 2021)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedmaternalyesnot 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 GeneDx, SCV000240277.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10090474, 16403972, 10958654, 31623504, 33648541, 20933180)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Laboratoire Génétique Moléculaire, CHRU TOURS, SCV001760574.1

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

Last Updated: Jun 23, 2024