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NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe) AND Tay-Sachs disease, variant AB

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2020
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:
RCV001344003.6

Allele description [Variation Report for NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)]

NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)

Gene:
GM2A:ganglioside GM2 activator [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)
HGVS:
  • NC_000005.10:g.151266763_151266764delinsTT
  • NG_009059.1:g.18712_18713delinsTT
  • NM_000405.5:c.276_277delinsTTMANE SELECT
  • NM_001167607.3:c.276_277delinsTT
  • NP_000396.2:p.Leu93Phe
  • NP_001161079.1:p.Leu93Phe
  • NC_000005.9:g.150646324_150646325delinsTT
Protein change:
L93F
Links:
dbSNP: rs1753894633
NCBI 1000 Genomes Browser:
rs1753894633
Molecular consequence:
  • NM_000405.5:c.276_277delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167607.3:c.276_277delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tay-Sachs disease, variant AB
Synonyms:
Gm2-gangliosidosis, ab variant
Identifiers:
MONDO: MONDO:0010099; MedGen: C0268275; Orphanet: 309246; OMIM: 272750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001538031Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 20, 2020) 		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, SCV001538031.3

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

Description

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. This variant has not been reported in the literature in individuals with GM2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 93 of the GM2A protein (p.Leu93Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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

Last Updated: Sep 29, 2024