NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) AND Mucolipidosis type II

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000032289.3

Allele description [Variation Report for NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)]

NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)

Gene:
GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)
HGVS:
  • NC_000012.12:g.101770112_101770115dup
  • NG_021243.1:g.65754_65757dup
  • NM_024312.5:c.1191_1194dupMANE SELECT
  • NP_077288.2:p.Ser399fs
  • NC_000012.11:g.102163890_102163893dup
  • NM_024312.4:c.1191_1194dupGCTG
Protein change:
S399fs
Links:
dbSNP: rs281864971
NCBI 1000 Genomes Browser:
rs281864971
Molecular consequence:
  • NM_024312.5:c.1191_1194dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucolipidosis type II
Synonyms:
ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055933GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

Tappino B, Chuzhanova NA, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper DN, Filocamo M.

Hum Mutat. 2009 Nov;30(11):E956-73. doi: 10.1002/humu.21099.

PubMed [citation]
PMID:
19634183

GNPTAB-Related Disorders.

Leroy JG, Cathey SS, Friez MJ.

2008 Aug 26 [updated 2019 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301728

Details of each submission

From GeneReviews, SCV000055933.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 8, 2022