NM_000404.4(GLB1):c.1634dup (p.Asn545fs) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Jan 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665150.1

Allele description [Variation Report for NM_000404.4(GLB1):c.1634dup (p.Asn545fs)]

NM_000404.4(GLB1):c.1634dup (p.Asn545fs)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
HGVS:
  • NC_000003.12:g.33014157dup
  • NG_009005.1:g.88047dup
  • NM_000404.4:c.1634dupMANE SELECT
  • NM_001079811.3:c.1544dup
  • NM_001135602.3:c.1241dup
  • NM_001317040.2:c.1778dup
  • NM_001393580.1:c.1634dup
  • NP_000395.3:p.Asn545fs
  • NP_001073279.2:p.Asn515fs
  • NP_001129074.2:p.Asn414fs
  • NP_001303969.2:p.Asn593fs
  • NP_001380509.1:p.Asn545fs
  • NC_000003.11:g.33055647_33055648insT
  • NC_000003.11:g.33055649dup
  • NM_000404.2:c.1634dupA
Protein change:
N414fs
Links:
dbSNP: rs754131566
NCBI 1000 Genomes Browser:
rs754131566
Molecular consequence:
  • NM_000404.4:c.1634dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079811.3:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001135602.3:c.1241dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317040.2:c.1778dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001393580.1:c.1634dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000789219Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 19, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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