NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001383041.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)]

NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
HGVS:
  • NC_000008.11:g.43192324dup
  • NG_009552.1:g.56876dup
  • NM_001363227.2:c.1271dup
  • NM_001363228.2:c.1079dup
  • NM_001363229.2:c.407dup
  • NM_152419.3:c.1271dupMANE SELECT
  • NP_001350156.1:p.Ile425fs
  • NP_001350157.1:p.Ile361fs
  • NP_001350158.1:p.Ile137fs
  • NP_689632.2:p.Ile425fs
  • NC_000008.10:g.43047462_43047463insG
  • NC_000008.10:g.43047467dup
  • NM_152419.2:c.1271dupG
Protein change:
I137fs
Links:
dbSNP: rs1804565177
NCBI 1000 Genomes Browser:
rs1804565177
Molecular consequence:
  • NM_001363227.2:c.1271dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363228.2:c.1079dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363229.2:c.407dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152419.3:c.1271dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-C (MPS3C)
Synonyms:
Mucopoly-saccharidosis type 3C; Sanfilippo syndrome C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009657; MedGen: C0086649; Orphanet: 581; Orphanet: 79271; OMIM: 252930
Name:
Retinitis pigmentosa 73 (RP73)
Identifiers:
MONDO: MONDO:0014687; MedGen: C4225287; Orphanet: 791; OMIM: 616544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001582050Invitaecriteria provided, single submitter
Pathogenic
(Jul 13, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, et al.

Am J Hum Genet. 2006 Nov;79(5):807-19. Epub 2006 Sep 8.

PubMed [citation]
PMID:
17033958
PMCID:
PMC1698556

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV.

Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review.

PubMed [citation]
PMID:
19479962
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001582050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ile425Hisfs*45) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type IIIC (PMID: 19479962). Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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