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NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2017
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:
RCV000781463.1

Allele description [Variation Report for NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)]

NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
HGVS:
  • NC_000015.10:g.72351165C>T
  • NG_009017.2:g.30015G>A
  • NM_000520.6:c.640G>AMANE SELECT
  • NM_001318825.2:c.673G>A
  • NP_000511.2:p.Glu214Lys
  • NP_001305754.1:p.Glu225Lys
  • NC_000015.9:g.72643506C>T
  • NM_000520.4:c.640G>A
  • NR_134869.3:n.682G>A
Protein change:
E214K
Links:
dbSNP: rs1227959449
NCBI 1000 Genomes Browser:
rs1227959449
Molecular consequence:
  • NM_000520.6:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318825.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134869.3:n.682G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919500Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 14, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919500.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The HEXA c.640G>A (p.Glu214Lys) variant is located in the Glycoside hydrolase family 20, catalytic domain (IPR015883) (InterPro) and involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 1/30984 control chromosomes (gnomAD) at a frequency of 0.0000323, which does not exceed the estimated maximal expected allele frequency of a pathogenic HEXA variant (0.0013975). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).

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

Last Updated: Feb 7, 2023