NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 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:: RCV000666452.1

Allele description [Variation Report for NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)]

NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)

Gene:

GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

Preferred name:

NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)

HGVS:

NC_000003.12:g.33051989A>C
NG_009005.1:g.50214T>G
NM_000404.4:c.808T>GMANE SELECT
NM_001079811.3:c.718T>G
NM_001135602.3:c.415T>G
NM_001317040.2:c.952T>G
NM_001393580.1:c.808T>G
NP_000395.3:p.Tyr270Asp
NP_001073279.2:p.Tyr240Asp
NP_001129074.2:p.Tyr139Asp
NP_001303969.2:p.Tyr318Asp
NP_001380509.1:p.Tyr270Asp
NC_000003.11:g.33093481A>C
NM_000404.2:c.808T>G

Protein change:

Y139D

Links:

dbSNP: rs376663785

NCBI 1000 Genomes Browser:

rs376663785

Molecular consequence:

NM_000404.4:c.808T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079811.3:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135602.3:c.415T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317040.2:c.952T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001393580.1:c.808T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: GM1 gangliosidosis type 2
Synonyms:: GM1-GANGLIOSIDOSIS, TYPE II; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II; Gangliosidosis, generalized GM1, juvenile type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009261; MedGen: C0268272; Orphanet: 354; Orphanet: 79256; OMIM: 230600

Name:: GM1 gangliosidosis type 3
Synonyms:: GM1-GANGLIOSIDOSIS, TYPE III; GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009262; MedGen: C0268273; OMIM: 230650

Name:: Mucopolysaccharidosis, MPS-IV-B (MPS4B)
Synonyms:: MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010

Name:: Infantile GM1 gangliosidosis
Synonyms:: Gangliosidosis, Generalized GM1, Type 1; GM1 gangliosidosis type 1; GM1-gangliosidosis, type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009260; MedGen: C0268271; Orphanet: 354; OMIM: 230500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790747	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 6, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21520340, 19472408 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790747

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Apr 6, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E.

Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516.

PubMed [citation]

PMID:: 21520340

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E.

Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031.

PubMed [citation]

PMID:: 19472408

Details of each submission

From Counsyl, SCV000790747.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Jul 7, 2024

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