NR_134869.1(HEXA):n.295A>G AND Tay-Sachs disease

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000380387.2

Allele description [Variation Report for NR_134869.1(HEXA):n.295A>G]

NR_134869.1(HEXA):n.295A>G

Genes:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
HEXA-AS1:HEXA antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NR_134869.1(HEXA):n.295A>G
HGVS:
  • NC_000015.10:g.72376179T>C
  • NG_009017.1:g.5001A>G
  • NG_009017.2:g.5001A>G
  • NC_000015.9:g.72668520T>C
  • NM_000520.4:c.-207A>G
  • NR_027262.1:n.67T>C
Links:
dbSNP: rs886051464
NCBI 1000 Genomes Browser:
rs886051464
Molecular consequence:
  • NR_027262.1:n.67T>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000393848Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000393848.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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