NM_000202.8(IDS):c.121_123del (p.Leu41del) AND Mucopolysaccharidosis, MPS-II

Clinical significance:Likely pathogenic (Last evaluated: May 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375841.1

Allele description [Variation Report for NM_000202.8(IDS):c.121_123del (p.Leu41del)]

NM_000202.8(IDS):c.121_123del (p.Leu41del)

Gene:
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000202.8(IDS):c.121_123del (p.Leu41del)
HGVS:
  • NC_000023.11:g.149504274_149504276del
  • NG_011900.3:g.6059_6061del
  • NM_000202.8:c.121_123delMANE SELECT
  • NM_001166550.4:c.-106_-104del
  • NM_006123.5:c.121_123del
  • NP_000193.1:p.Leu41del
  • NP_006114.1:p.Leu41del
  • NC_000023.10:g.148585804_148585806del
  • NM_000202.8:c.121_123delCTCMANE SELECT
  • NR_104128.2:n.290_292del
Protein change:
L41del
Molecular consequence:
  • NM_001166550.4:c.-106_-104del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000202.8:c.121_123del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006123.5:c.121_123del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_104128.2:n.290_292del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:
MPS II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001572613Pediatrics,All India Institute of Medical Sciences, New Delhino assertion criteria providedLikely pathogenic
(May 1, 2014)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
INDIANgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Pediatrics,All India Institute of Medical Sciences, New Delhi, SCV001572613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1INDIAN1not providednot providedresearchnot provided

Description

The variant c.121_123delCTC (p.L41del) was found to be a small in-frame deletion, where the peptide sequence gets shortened by an aliphatic nonpolar neutral amino acid, Leucine at 41 position. It was detected in the hemizygous condition in one of the patients with sever MPS-2 phenotype from Uttarpradesh state of India.

Description

The variant c.121_123delCTC (p.L41del) was found to be a small in-frame deletion, where the peptide sequence gets shortened by an aliphatic nonpolar neutral amino acid, Leucine at 41 position. It was detected in the hemizygous condition in one of the patients with sever MPS-2 phenotype from Uttarpradesh state of India.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2021

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