U.S. flag

An official website of the United States government

NM_000404.4(GLB1):c.733+2_733+4del AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 13, 2018
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:
RCV000674052.1

Allele description [Variation Report for NM_000404.4(GLB1):c.733+2_733+4del]

NM_000404.4(GLB1):c.733+2_733+4del

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.733+2_733+4del
HGVS:
  • NC_000003.12:g.33058086_33058088del
  • NG_009005.1:g.44116_44118del
  • NM_000404.4:c.733+2_733+4delMANE SELECT
  • NM_001079811.3:c.643+2_643+4del
  • NM_001135602.3:c.341-4538_341-4536del
  • NM_001317040.2:c.877+2_877+4del
  • NM_001393580.1:c.733+2_733+4del
  • NC_000003.11:g.33099578_33099580del
  • NM_000404.2:c.733+2_733+4delTTG
Links:
dbSNP: rs1553611016
NCBI 1000 Genomes Browser:
rs1553611016
Molecular consequence:
  • NM_001135602.3:c.341-4538_341-4536del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000404.4:c.733+2_733+4del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001079811.3:c.643+2_643+4del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317040.2:c.877+2_877+4del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001393580.1:c.733+2_733+4del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
GM1 gangliosidosis type 2
Synonyms:
GM1-GANGLIOSIDOSIS, TYPE II; GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II; 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:
MORQUIO SYNDROME B; MPS IVB; 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799325Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Apr 13, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799325.1

#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: Apr 7, 2025