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NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) AND Tay-Sachs disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 2011
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:
RCV000416475.1

Allele description [Variation Report for NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)]

NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)
HGVS:
  • NC_000015.10:g.72345540C>T
  • NG_009017.2:g.35640G>A
  • NM_000520.6:c.1432G>AMANE SELECT
  • NM_001318825.2:c.1465G>A
  • NP_000511.2:p.Gly478Arg
  • NP_001305754.1:p.Gly489Arg
  • NC_000015.9:g.72637881C>T
  • NM_000520.4:c.1432G>A
  • NR_134869.3:n.1217G>A
  • p.G478R
Protein change:
G478R
Links:
dbSNP: rs1057519467
NCBI 1000 Genomes Browser:
rs1057519467
Molecular consequence:
  • NM_000520.6:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318825.2:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134869.3:n.1217G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Tay-Sachs disease (TSD)
Synonyms:
GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase alpha-subunit deficiency (variant B); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010100; MedGen: C0039373; Orphanet: 845; OMIM: 272800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494227Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Pathogenic
(Mar 22, 2011) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot provided1not providedresearch

Citations

PubMed

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, Idicula-Thomas S, Gupta S, Sheth J.

PLoS One. 2012;7(6):e39122. doi: 10.1371/journal.pone.0039122. Epub 2012 Jun 18.

PubMed [citation]
PMID:
22723944
PMCID:
PMC3377590

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000494227.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1Bloodnot provided1not providednot providednot provided

Last Updated: Apr 23, 2022