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NM_000404.4(GLB1):c.858C>T (p.Thr286=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 23, 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:
RCV000667352.1

Allele description [Variation Report for NM_000404.4(GLB1):c.858C>T (p.Thr286=)]

NM_000404.4(GLB1):c.858C>T (p.Thr286=)

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.858C>T (p.Thr286=)
HGVS:
  • NC_000003.12:g.33051939G>A
  • NG_009005.1:g.50264C>T
  • NM_000404.4:c.858C>TMANE SELECT
  • NM_001079811.3:c.768C>T
  • NM_001135602.3:c.465C>T
  • NM_001317040.2:c.1002C>T
  • NM_001393580.1:c.858C>T
  • NP_000395.3:p.Thr286=
  • NP_001073279.2:p.Thr256=
  • NP_001129074.2:p.Thr155=
  • NP_001303969.2:p.Thr334=
  • NP_001380509.1:p.Thr286=
  • NC_000003.11:g.33093431G>A
  • NM_000404.2:c.858C>T
Links:
dbSNP: rs770638519
NCBI 1000 Genomes Browser:
rs770638519
Molecular consequence:
  • NM_000404.4:c.858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079811.3:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001135602.3:c.465C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317040.2:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001393580.1:c.858C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791786Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(May 23, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, et al.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

PubMed [citation]
PMID:
21497194
PMCID:
PMC3210552

Details of each submission

From Counsyl, SCV000791786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024