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NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV004526053.1

Allele description [Variation Report for NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)]

NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)

Gene:
HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
HGVS:
  • NC_000005.10:g.74705310T>C
  • NG_009770.2:g.70288T>C
  • NM_000521.4:c.761T>CMANE SELECT
  • NM_001292004.2:c.86T>C
  • NP_000512.2:p.Leu254Ser
  • NP_001278933.1:p.Leu29Ser
  • NC_000005.9:g.74001135T>C
  • NC_000005.9:g.74001135T>C
Protein change:
L254S
Links:
dbSNP: rs771103635
NCBI 1000 Genomes Browser:
rs771103635
Molecular consequence:
  • NM_000521.4:c.761T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292004.2:c.86T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040081Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 7, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S, Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D.

BMC Pediatr. 2021 Jan 7;21(1):22. doi: 10.1186/s12887-020-02481-3.

PubMed [citation]
PMID:
33407268
PMCID:
PMC7789739

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040081.1

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

Description

Variant summary: HEXB c.761T>C (p.Leu254Ser) results in a non-conservative amino acid change located in the Glycoside hydrolase family 20, catalytic domain (IPR015883) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251310 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.761T>C has been reported in the literature in individuals affected with Sandhoff Disease. These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 800653). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: May 7, 2024