NM_000520.6(HEXA):c.1008G>C (p.Gln336His) AND Tay-Sachs disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 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:: RCV000665394.1

Allele description [Variation Report for NM_000520.6(HEXA):c.1008G>C (p.Gln336His)]

NM_000520.6(HEXA):c.1008G>C (p.Gln336His)

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.1008G>C (p.Gln336His)

HGVS:

NC_000015.10:g.72348113C>G
NG_009017.2:g.33067G>C
NM_000520.6:c.1008G>CMANE SELECT
NM_001318825.2:c.1041G>C
NP_000511.2:p.Gln336His
NP_001305754.1:p.Gln347His
NC_000015.9:g.72640454C>G
NM_000520.4:c.1008G>C
NR_134869.3:n.1050G>C

Protein change:

Q336H

Links:

dbSNP: rs1555472602

NCBI 1000 Genomes Browser:

rs1555472602

Molecular consequence:

NM_000520.6:c.1008G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001318825.2:c.1041G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_134869.3:n.1050G>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789510	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 3, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789510

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Feb 3, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000789510.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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