NM_000404.4(GLB1):c.1577dup (p.Trp527fs) AND GLB1-Related Disorders

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000784901.2

Allele description [Variation Report for NM_000404.4(GLB1):c.1577dup (p.Trp527fs)]

NM_000404.4(GLB1):c.1577dup (p.Trp527fs)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
Other names:
1622_1627insG
HGVS:
  • NC_000003.12:g.33014218dup
  • NG_009005.1:g.87990dup
  • NM_000404.4:c.1577dupMANE SELECT
  • NM_001079811.3:c.1487dup
  • NM_001135602.3:c.1184dup
  • NM_001317040.2:c.1721dup
  • NM_001393580.1:c.1577dup
  • NP_000395.3:p.Trp527fs
  • NP_001073279.2:p.Trp497fs
  • NP_001129074.2:p.Trp396fs
  • NP_001303969.2:p.Trp575fs
  • NP_001380509.1:p.Trp527fs
  • NC_000003.11:g.33055704_33055705insC
  • NC_000003.11:g.33055704_33055705insC
  • NC_000003.11:g.33055710dup
  • NC_000003.11:g.33055710dupC
  • NM_000404.2:c.1577dupG
  • NM_000404.3:c.1577dupG
  • NM_000404.4:c.1577dupGMANE SELECT
Protein change:
W396fs
Links:
dbSNP: rs794729217
NCBI 1000 Genomes Browser:
rs794729217
Molecular consequence:
  • NM_000404.4:c.1577dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079811.3:c.1487dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001135602.3:c.1184dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001317040.2:c.1721dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001393580.1:c.1577dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
GLB1-Related Disorders
Identifiers:
MedGen: CN169666

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000923441Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Jan 1, 2019)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000923441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 21, 2021

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