NM_000520.6(HEXA):c.32del (p.Leu11fs) AND Tay-Sachs disease

Clinical significance:Pathogenic (Last evaluated: Apr 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001391003.1

Allele description [Variation Report for NM_000520.6(HEXA):c.32del (p.Leu11fs)]

NM_000520.6(HEXA):c.32del (p.Leu11fs)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.32del (p.Leu11fs)
HGVS:
  • NC_000015.10:g.72375941del
  • NG_009017.2:g.5239del
  • NM_000520.6:c.32delMANE SELECT
  • NM_001318825.2:c.32del
  • NP_000511.2:p.Leu11fs
  • NP_001305754.1:p.Leu11fs
  • NC_000015.9:g.72668282del
  • NR_134869.3:n.74del
Protein change:
L11fs
Molecular consequence:
  • NM_000520.6:c.32del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318825.2:c.32del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_134869.3:n.74del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001592918Invitaecriteria provided, single submitter
Pathogenic
(Apr 14, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Triggs-Raine BL, Akerman BR, Clarke JT, Gravel RA.

Am J Hum Genet. 1991 Nov;49(5):1041-54.

PubMed [citation]
PMID:
1833974
PMCID:
PMC1683266

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.

Hum Mol Genet. 1993 Jan;2(1):61-7. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PubMed [citation]
PMID:
8490625
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Leu11Argfs*89) in the HEXA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HEXA-related conditions. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center