Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000203.5(IDUA):c.1190-10dup

CA145869

92626 (ClinVar)

Gene: IDUA
Condition: mucopolysaccharidosis type 1
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 0462f565-b140-443a-b893-a4bf166a012e
Approved on: 2024-12-06
Published on: 2024-12-15

HGVS expressions

NM_000203.5:c.1190-10dupC
NM_000203.5:c.1190-10dup
NM_000203.5(IDUA):c.1190-10dup
NC_000004.12:g.1002722dup
CM000666.2:g.1002722dup
NC_000004.11:g.996510dup
CM000666.1:g.996510dup
NC_000004.10:g.986510dup
NG_008103.1:g.20726dup
ENST00000247933.9:c.1190-10dup
ENST00000514224.2:c.1190-10dup
ENST00000652070.1:n.1246-10dup
ENST00000247933.8:c.1190-10dup
ENST00000514224.1:c.794-10dup
ENST00000514698.5:n.1297-10dup
NM_000203.4:c.1190-10dup
NR_110313.1:n.1278-10dup
NM_001363576.1:c.794-10dup
More

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Lysosomal Diseases VCEP
NM_000203.5:c.1190-10dupC variant is in the acceptor splice site region of intron 8 of IDUA. The highest population minor allele frequency in gnomAD v4.1.0 is 0.2350 (16758/71322 alleles; 1409 homozygotes; Grpmax Filtering AF 95% confidence = 0.2320) in the South Asian population, which is higher than the ClinGen Lysosomal Diseases VCEP’s threshold for BA1 (>0.005), and therefore meets this criterion (BA1). There is a ClinVar entry for this variant (Variation ID: 92626). In summary, this variant meets the criteria to be classified as benign for mucopolysaccharidosis type 1. IDUA-specific ACMG-AMP criteria applied, as specified by the ClinGen Lysosomal Diseases Variant Curation Expert Panel (Specifications Version 1.0.0): BA1. (Classification approved by the ClinGen Lysosomal Diseases Variant Curation Expert Panel on December 6, 2024)
Met criteria codes
BA1
The highest population minor allele frequency in gnomAD v4.1.0 is 0.2350 (16758/71322 alleles; 1409 homozygotes; Grpmax Filtering AF 95% confidence = 0.2320) in the South Asian population, which is higher than the ClinGen Lysosomal Diseases VCEP’s threshold for BA1 (>0.005), and therefore meets this criterion (BA1).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.