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NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) AND multiple conditions

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:
RCV001535647.2

Allele description [Variation Report for NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)]

NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)

Genes:
LOC126863160:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42462918-42464117 [Gene]
NAGA:alpha-N-acetylgalactosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
HGVS:
  • NC_000022.11:g.42067128C>T
  • NG_009247.1:g.8715G>A
  • NM_000262.3:c.487G>AMANE SELECT
  • NM_001362848.1:c.487G>A
  • NM_001362850.1:c.487G>A
  • NP_000253.1:p.Glu163Lys
  • NP_001349777.1:p.Glu163Lys
  • NP_001349779.1:p.Glu163Lys
  • NC_000022.10:g.42463132C>T
  • NM_000262.2:c.487G>A
Protein change:
E163K
Links:
dbSNP: rs372458856
NCBI 1000 Genomes Browser:
rs372458856
Molecular consequence:
  • NM_000262.3:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362848.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362850.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alpha-N-acetylgalactosaminidase deficiency type 2
Synonyms:
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; NAGA DEFICIENCY, TYPE II; SCHINDLER DISEASE, TYPE II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012222; MedGen: C1836522; Orphanet: 3137; Orphanet: 79280; OMIM: 609242
Name:
Alpha-N-acetylgalactosaminidase deficiency type 1
Synonyms:
SCHINDLER DISEASE, TYPE I; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; NAGA DEFICIENCY, TYPE I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012221; MedGen: C1836544; Orphanet: 3137; Orphanet: 79279; Orphanet: 79281; OMIM: 609241
Name:
Alpha-N-acetylgalactosaminidase deficiency type 3
Synonyms:
SCHINDLER DISEASE, TYPE III; Schindler disease, type 3; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III
Identifiers:
MONDO: MONDO:0019264; MedGen: C5437471

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749688GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749688.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 08-28-2020 by 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
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024