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NM_000405.5(GM2A):c.244-2A>T AND Tay-Sachs disease, variant AB

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 27, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000416363.1

Allele description [Variation Report for NM_000405.5(GM2A):c.244-2A>T]

NM_000405.5(GM2A):c.244-2A>T

Gene:
GM2A:ganglioside GM2 activator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000405.5(GM2A):c.244-2A>T
HGVS:
  • NC_000005.10:g.151266729A>T
  • NG_009059.1:g.18678A>T
  • NM_000405.5:c.244-2A>TMANE SELECT
  • NM_001167607.3:c.244-2A>T
  • NC_000005.9:g.150646290A>T
  • NM_000405.4:c.244-2A>T
Links:
dbSNP: rs1057519022
NCBI 1000 Genomes Browser:
rs1057519022
Molecular consequence:
  • NM_000405.5:c.244-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001167607.3: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:
MONDO: MONDO:0010099; MedGen: C0268275; Orphanet: 309246; OMIM: 272750

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282679Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Likely pathogenic
(Nov 27, 2015) 		germlineresearch

Help

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, FRIGE's 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: Jun 10, 2023