NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del) AND Tay-Sachs disease, B1 variant

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004127.2

Allele description [Variation Report for NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)]

NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)
HGVS:
  • NC_000015.10:g.72349102TCC[1]
  • NG_009017.2:g.32074GAG[1]
  • NM_000520.6:c.959GAG[1]MANE SELECT
  • NM_001318825.2:c.992GAG[1]
  • NP_000511.2:p.Gly321del
  • NP_001305754.1:p.Gly332del
  • NC_000015.9:g.72641443TCC[1]
  • NG_009017.1:g.32077_32079del
  • NR_134869.3:n.1001GAG[1]
Nucleotide change:
GGA DEL, CODON 320 OR CODON 321
Protein change:
G321del
Links:
OMIM: 606869.0034; dbSNP: rs797044434
NCBI 1000 Genomes Browser:
rs797044434
Molecular consequence:
  • NM_000520.6:c.959GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001318825.2:c.992GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_134869.3:n.1001GAG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Tay-Sachs disease, B1 variant
Identifiers:
MONDO: MONDO:0017728; MedGen: C1848916

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024293OMIMno assertion criteria providedPathogenic
(Apr 1, 1992)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

Mules EH, Hayflick S, Miller CS, Reynolds LW, Thomas GH.

Am J Hum Genet. 1992 Apr;50(4):834-41.

PubMed [citation]
PMID:
1532289
PMCID:
PMC1682641

Details of each submission

From OMIM, SCV000024293.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a carrier for the B1 variant (272800), Mules et al. (1992) identified an in-frame deletion of 1 of 2 adjacent glycine codons (GGA) at position 320 or 321. The deletion was in exon 8.

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

Last Updated: Oct 7, 2021

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