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NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu) AND Tay-Sachs disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002580839.2

Allele description [Variation Report for NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)]

NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
HGVS:
  • NC_000015.10:g.72375923_72375924delinsAA
  • NG_009017.2:g.5256_5257delinsTT
  • NG_009017.3:g.5090_5091delinsTT
  • NG_131562.1:g.218_219delinsAA
  • NM_000520.6:c.49_50delinsTTMANE SELECT
  • NM_001318825.2:c.49_50delinsTT
  • NP_000511.2:p.Ala17Leu
  • NP_001305754.1:p.Ala17Leu
  • NC_000015.9:g.72668264_72668265delinsAA
  • NR_134869.3:n.91_92delinsTT
Protein change:
A17L
Molecular consequence:
  • NM_000520.6:c.49_50delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318825.2:c.49_50delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134869.3:n.91_92delinsTT - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002942453Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 4, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002942453.1

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 17 of the HEXA protein (p.Ala17Leu). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with HEXA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024