NM_000405.4(GM2A):c.244-2A>T AND Tay-Sachs disease, variant AB

Clinical significance:Likely pathogenic (Last evaluated: Nov 27, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416363.1

Allele description

NM_000405.4(GM2A):c.244-2A>T

Gene:
GM2A:GM2 ganglioside activator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000405.4(GM2A):c.244-2A>T
HGVS:
  • NC_000005.10:g.151266729A>T
  • NG_009059.1:g.18678A>T
  • NM_000405.4:c.244-2A>T
  • NC_000005.9:g.150646290A>T
Links:
dbSNP: rs1057519022
NCBI 1000 Genomes Browser:
rs1057519022
Molecular consequence:
  • NM_000405.4:c.244-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
unknown functional consequence

Condition(s)

Name:
Tay-Sachs disease, variant AB
Synonyms:
Gm2-gangliosidosis, ab variant
Identifiers:
MedGen: C0268275; Orphanet: 309246; OMIM: 272750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282679Foundation for Research in Genetics and Endocrinology,Institute of Human Geneticsno assertion criteria providedLikely pathogenic
(Nov 27, 2015)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics, SCV000282679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 5, 2017