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NM_000404.4(GLB1):c.65_75+1del AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 29, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000671128.2

Allele description [Variation Report for NM_000404.4(GLB1):c.65_75+1del]

NM_000404.4(GLB1):c.65_75+1del

Genes:
LOC129936434:ATAC-STARR-seq lymphoblastoid silent region 14182 [Gene]
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
TMPPE:transmembrane protein with metallophosphoesterase domain [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.65_75+1del
Other names:
p.Arg22_Asn26delinsGLn
HGVS:
  • NC_000003.12:g.33097010_33097021del
  • NG_009005.1:g.5182_5193del
  • NG_009005.2:g.5125_5136del
  • NG_169445.1:g.377_388del
  • NM_000404.4:c.65_75+1delMANE SELECT
  • NM_001039770.3:c.-411_-400delMANE SELECT
  • NM_001135602.3:c.65_75+1del
  • NM_001136238.2:c.-307_-296del
  • NM_001317040.2:c.65_75+1del
  • NM_001393580.1:c.65_75+1del
  • NC_000003.11:g.33138502_33138513del
  • NM_000404.2:c.65_75+1del
  • NM_000404.2:c.65_75+1del12
Links:
dbSNP: rs1382394474
NCBI 1000 Genomes Browser:
rs1382394474
Molecular consequence:
  • NM_001039770.3:c.-411_-400del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001136238.2:c.-307_-296del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000404.4:c.65_75+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001135602.3:c.65_75+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001317040.2:c.65_75+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001393580.1:c.65_75+1del - 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; Mucopolysaccharidosis type IV B; 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
SCV000796073Counsyl
no assertion criteria provided
Likely pathogenic
(Nov 29, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796073.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 5, 2025