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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 29, 2021)
Last evaluated:
May 1, 2014
Accession:
VCV001065310.1
Variation ID:
1065310
Description:
3bp deletion
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NM_000202.8(IDS):c.121_123del (p.Leu41del)

Allele ID
1053624
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
Xq28
Genomic location
X: 149504274-149504276 (GRCh38) GRCh38 UCSC
X: 148585804-148585806 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.148585804_148585806del
NC_000023.11:g.149504274_149504276del
NM_000202.8:c.121_123delCTC MANE Select
... more HGVS
Protein change
L41del
Other names
-
Canonical SPDI
NC_000023.11:149504273:GAG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 1, 2014 RCV001375841.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDS Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
217 641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 01, 2014)
no assertion criteria provided
Method: research
Mucopolysaccharidosis, MPS-II
(X-linked recessive inheritance)
Allele origin: germline
Pediatrics,All India Institute of Medical Sciences, New Delhi
Accession: SCV001572613.1
Submitted: (Apr 29, 2021)
Evidence details
Comment:
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, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated May 01, 2021