NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) AND Tay-Sachs disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 22, 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:: RCV000671720.1

Allele description [Variation Report for NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)]

NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)

Gene:

HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)

HGVS:

NC_000015.10:g.72346686_72346688delinsA
NG_009017.1:g.34492_34494delinsT
NG_009017.2:g.34492_34494delinsT
NM_000520.6:c.1169_1171delinsTMANE SELECT
NM_001318825.2:c.1202_1204delinsT
NP_000511.2:p.Gln390fs
NP_001305754.1:p.Gln401fs
NC_000015.9:g.72639027_72639029delinsA
NM_000520.4:c.1169_1171delAGGinsT

Protein change:

Q390fs

Links:

dbSNP: rs1555472440

NCBI 1000 Genomes Browser:

rs1555472440

Molecular consequence:

NM_000520.6:c.1169_1171delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318825.2:c.1202_1204delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000796727	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 22, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796727

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Dec 22, 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, SCV000796727.1

#	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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