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NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 23, 2022
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:
RCV000186674.5

Allele description [Variation Report for NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)]

NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)

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.569G>A (p.Arg190Gln)
Other names:
p.R190Q:CGA>CAA
HGVS:
  • NC_000022.11:g.40358950G>A
  • NG_007993.2:g.17451G>A
  • NM_000026.4:c.569G>AMANE SELECT
  • NM_001123378.3:c.569G>A
  • NM_001317923.2:c.377G>A
  • NM_001363840.3:c.569G>A
  • NP_000017.1:p.Arg190Gln
  • NP_001116850.1:p.Arg190Gln
  • NP_001304852.1:p.Arg126Gln
  • NP_001350769.1:p.Arg190Gln
  • NC_000022.10:g.40754954G>A
  • NM_000026.2:c.569G>A
  • NR_134256.2:n.628G>A
  • P30566:p.Arg190Gln
Protein change:
R126Q; ARG190GLN
Links:
UniProtKB: P30566#VAR_007974; OMIM: 608222.0005; dbSNP: rs28941471
NCBI 1000 Genomes Browser:
rs28941471
Molecular consequence:
  • NM_000026.4:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123378.3:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317923.2:c.377G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363840.3:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134256.2:n.628G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240240GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Mar 23, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000240240.16

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect as this variant decreases enzyme stability (Kmoch et al., 2000; Zikanova et al., 2010); This variant is associated with the following publications: (PMID: 10888601, 10090474, 20127976)

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

Last Updated: Feb 28, 2024