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NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) AND Intellectual disability, autosomal recessive 58

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003483668.1

Allele description [Variation Report for NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)]

NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)

Gene:
PGAP1:post-GPI attachment to proteins inositol deacylase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
HGVS:
  • NC_000002.12:g.196873021T>C
  • NG_046780.1:g.58975A>G
  • NM_001321099.2:c.1036A>G
  • NM_001321100.2:c.391A>G
  • NM_024989.4:c.1558A>GMANE SELECT
  • NP_001308028.1:p.Ile346Val
  • NP_001308029.1:p.Ile131Val
  • NP_079265.2:p.Ile520Val
  • NC_000002.11:g.197737745T>C
  • NM_024989.3:c.1558A>G
Protein change:
I131V
Links:
dbSNP: rs201002323
NCBI 1000 Genomes Browser:
rs201002323
Molecular consequence:
  • NM_001321099.2:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321100.2:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024989.4:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal recessive 58 (MRT58)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58
Identifiers:
MONDO: MONDO:0014996; MedGen: C4310641; OMIM: 617270

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228688GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-26-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024