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NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) AND Tay-Sachs disease

Germline classification:
other (2 submissions)
Last evaluated:
Dec 13, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000190592.15

Allele description [Variation Report for NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)]

NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
HGVS:
  • NC_000015.10:g.72350578G>A
  • NG_009017.2:g.30602C>T
  • NM_000520.6:c.745C>TMANE SELECT
  • NM_001318825.2:c.778C>T
  • NP_000511.2:p.Arg249Trp
  • NP_001305754.1:p.Arg260Trp
  • NC_000015.9:g.72642919G>A
  • NM_000520.4:c.745C>T
  • NR_134869.3:n.787C>T
  • P06865:p.Arg249Trp
  • c.745C>T (p.Arg249Trp)
Protein change:
R249W
Links:
Genetic Testing Registry (GTR): GTR000321634; UniProtKB: P06865#VAR_003220; dbSNP: rs138058578
NCBI 1000 Genomes Browser:
rs138058578
Molecular consequence:
  • NM_000520.6:c.745C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318825.2:c.778C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134869.3:n.787C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
  • effect on catalytic protein function [Variation Ontology: 0008]
  • reduced [Variation Ontology: 0290]
Observations:
1

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
SCV000245618Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine - CSER-MedSeq
criteria provided, single submitter

(LMM Criteria)
other
(May 30, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000933533Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
other
(Dec 13, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Triggs-Raine BL, Mules EH, Kaback MM, Lim-Steele JS, Dowling CE, Akerman BR, Natowicz MR, Grebner EE, Navon R, Welch JP, et al.

Am J Hum Genet. 1992 Oct;51(4):793-801.

PubMed [citation]
PMID:
1384323
PMCID:
PMC1682803

Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, Bishop B, Saunders P, Porreca GJ, Schienda J, Davie J, Hallam S, Towne C.

Mol Genet Genomic Med. 2013 Nov;1(4):260-8. doi: 10.1002/mgg3.37. Epub 2013 Sep 16.

PubMed [citation]
PMID:
24498621
PMCID:
PMC3865593
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine - CSER-MedSeq, SCV000245618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

pseudodeficiency

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Invitae, SCV000933533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024