NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) AND Tay-Sachs disease

Clinical significance:Likely pathogenic (Last evaluated: Mar 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673289.1

Allele description [Variation Report for NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)]

NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
HGVS:
  • NC_000015.10:g.72353086AG[2]
  • NG_009017.2:g.28089CT[2]
  • NM_000520.6:c.551_552delMANE SELECT
  • NM_001318825.2:c.584_585del
  • NP_000511.2:p.Leu183_Ser184insTer
  • NP_001305754.1:p.Leu194_Ser195insTer
  • NC_000015.9:g.72645427AG[2]
  • NM_000520.4:c.551_552delCT
  • NR_134869.3:n.589CT[2]
Links:
dbSNP: rs1555473070
NCBI 1000 Genomes Browser:
rs1555473070
Molecular consequence:
  • NR_134869.3:n.589CT[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000520.6:c.551_552del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318825.2:c.584_585del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000798473Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 12, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798473.1

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

Last Updated: Oct 7, 2021

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