NM_000520.6(HEXA):c.786C>G (p.His262Gln) AND Tay-Sachs disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 2, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003149021.1

Allele description [Variation Report for NM_000520.6(HEXA):c.786C>G (p.His262Gln)]

NM_000520.6(HEXA):c.786C>G (p.His262Gln)

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.786C>G (p.His262Gln)

HGVS:

NC_000015.10:g.72350537G>C
NG_009017.2:g.30643C>G
NM_000520.6:c.786C>GMANE SELECT
NM_001318825.2:c.819C>G
NP_000511.2:p.His262Gln
NP_001305754.1:p.His273Gln
NC_000015.9:g.72642878G>C
NR_134869.3:n.828C>G

Protein change:

H262Q

Molecular consequence:

NM_000520.6:c.786C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001318825.2:c.819C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_134869.3:n.828C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Recent activity

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HAD family hydrolase [Neisseria gonorrhoeae]
HAD family hydrolase [Neisseria gonorrhoeae]
gi|489786805|ref|WP_003690696.1|

Protein
HYAL2 [Gorilla gorilla gorilla]
HYAL2 [Gorilla gorilla gorilla]
Gene ID:101123816

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570102	Istanbul Faculty of Medicine, Istanbul University	no assertion criteria provided	Likely pathogenic (Sep 2, 2022)	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002570102

Istanbul Faculty of Medicine, Istanbul University

no assertion criteria provided

Likely pathogenic
(Sep 2, 2022)

biparental

clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV002570102.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	biparental	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 11, 2023

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