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NM_000404.4(GLB1):c.31C>G (p.Leu11Val) AND Infantile GM1 gangliosidosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 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:
RCV001335294.2

Allele description [Variation Report for NM_000404.4(GLB1):c.31C>G (p.Leu11Val)]

NM_000404.4(GLB1):c.31C>G (p.Leu11Val)

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:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
HGVS:
  • NC_000003.12:g.33097055G>C
  • NG_009005.1:g.5148C>G
  • NM_000404.3:c.31C>G
  • NM_000404.4:c.31C>GMANE SELECT
  • NM_001039770.3:c.-445C>GMANE SELECT
  • NM_001135602.3:c.31C>G
  • NM_001136238.2:c.-341C>G
  • NM_001317040.2:c.31C>G
  • NM_001393580.1:c.31C>G
  • NP_000395.3:p.Leu11Val
  • NP_001129074.2:p.Leu11Val
  • NP_001303969.2:p.Leu11Val
  • NP_001380509.1:p.Leu11Val
  • NC_000003.11:g.33138547G>C
  • NM_000404.2:c.31C>G
Protein change:
L11V
Links:
dbSNP: rs77988381
NCBI 1000 Genomes Browser:
rs77988381
Molecular consequence:
  • NM_001039770.3:c.-445C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001136238.2:c.-341C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000404.4:c.31C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.31C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.31C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.31C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV001528412Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 26, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Baylor Genetics, SCV001528412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Jun 9, 2024