NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668974.1

Allele description [Variation Report for NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)]

NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)

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.1452C>G (p.Asn484Lys)
HGVS:
  • NC_000003.12:g.33016736G>C
  • NG_009005.1:g.85467C>G
  • NM_000404.4:c.1452C>GMANE SELECT
  • NM_001079811.3:c.1362C>G
  • NM_001135602.3:c.1059C>G
  • NM_001317040.2:c.1596C>G
  • NM_001393580.1:c.1452C>G
  • NP_000395.3:p.Asn484Lys
  • NP_001073279.2:p.Asn454Lys
  • NP_001129074.2:p.Asn353Lys
  • NP_001303969.2:p.Asn532Lys
  • NP_001380509.1:p.Asn484Lys
  • NC_000003.11:g.33058228G>C
  • NM_000404.2:c.1452C>G
Protein change:
N353K
Links:
dbSNP: rs968221254
NCBI 1000 Genomes Browser:
rs968221254
Molecular consequence:
  • NM_000404.4:c.1452C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.1362C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.1059C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.1596C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.1452C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GM1 gangliosidosis type 2 (GM1G2)
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 (GM1G3)
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 (GM1G1)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793661Counsylcriteria provided, single submitter
Uncertain significance
(Dec 14, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T.

J Biol Chem. 2012 Jan 13;287(3):1801-12. doi: 10.1074/jbc.M111.293795. Epub 2011 Nov 28.

PubMed [citation]
PMID:
22128166
PMCID:
PMC3265862

Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.

Bagshaw RD, Zhang S, Hinek A, Skomorowski MA, Whelan D, Clarke JT, Callahan JW.

Biochim Biophys Acta. 2002 Dec 12;1588(3):247-53.

PubMed [citation]
PMID:
12393180
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000793661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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