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NM_000404.4(GLB1):c.34T>C (p.Leu12=) AND GM1 gangliosidosis type 3

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 2021
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:
RCV001701493.3

Allele description [Variation Report for NM_000404.4(GLB1):c.34T>C (p.Leu12=)]

NM_000404.4(GLB1):c.34T>C (p.Leu12=)

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.34T>C (p.Leu12=)
HGVS:
  • NC_000003.12:g.33097052A>G
  • NG_009005.1:g.5151T>C
  • NG_009005.2:g.5094T>C
  • NG_169445.1:g.419A>G
  • NM_000404.4:c.34T>CMANE SELECT
  • NM_001039770.3:c.-442T>CMANE SELECT
  • NM_001135602.3:c.34T>C
  • NM_001136238.2:c.-338T>C
  • NM_001317040.2:c.34T>C
  • NM_001393580.1:c.34T>C
  • NP_000395.3:p.Leu12=
  • NP_001129074.2:p.Leu12=
  • NP_001303969.2:p.Leu12=
  • NP_001380509.1:p.Leu12=
  • NC_000003.11:g.33138544A>G
  • NM_000404.2:c.34T>C
  • NM_000404.3:c.34T>C
  • NP_000395.2:p.(=)
Links:
dbSNP: rs7614776
NCBI 1000 Genomes Browser:
rs7614776
Molecular consequence:
  • NM_001039770.3:c.-442T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001136238.2:c.-338T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000404.4:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001135602.3:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001317040.2:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001393580.1:c.34T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001933797Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001933797.1

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

Last Updated: Sep 29, 2024