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NM_000405.4(GM2A):c.164C>T (p.Pro55Leu)

Variation ID: Help
183275
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic/Likely pathogenic
Last evaluated:
Oct 21, 2016
Number of submission(s):
2
Condition(s):
  • Tay-Sachs disease, variant AB [MedGen - Orphanet - OMIM]
  • Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000405.4(GM2A):c.164C>T (p.Pro55Leu)

Allele ID:
181419
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
  • Chr5: 151259837 (on Assembly GRCh38)
  • Chr5: 150639398 (on Assembly GRCh37)
Protein change:
P55L
HGVS:
  • NG_009059.1:g.11786C>T
  • NM_000405.4:c.164C>T
  • NP_000396.2:p.Pro55Leu
  • NC_000005.10:g.151259837C>T (GRCh38)
  • NC_000005.9:g.150639398C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs730882196
Molecular consequence:
NM_000405.4:c.164C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00001
  • The Genome Aggregation Database (gnomAD), exomes 0.00000

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Dec 1, 2014)
no assertion criteria providedresearch
  • Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy[MedGen]
germlineDevelopmental Genetics Unit,King Faisal Specialist Hospital & Research CentreSCV000196382.1
Pathogenic
(Oct 21, 2016)
no assertion criteria providedliterature onlygermlineOMIMSCV000292429.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centrenot providednot providedgermlinenot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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