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

Variant: NM_000022.4(ADA):c.715G>A (p.Gly239Ser)

CA9871547

338506 (ClinVar)

Gene: ADA
Condition: adenosine deaminase deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 50930a12-7058-4f02-8ae1-0e948bb5f111
Approved on: 2024-01-10
Published on: 2024-01-10

HGVS expressions

NM_000022.4:c.715G>A
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
NC_000020.11:g.44622894C>T
CM000682.2:g.44622894C>T
NC_000020.10:g.43251535C>T
CM000682.1:g.43251535C>T
NC_000020.9:g.42684949C>T
NG_007385.1:g.33842G>A
ENST00000372874.9:c.715G>A
ENST00000372874.8:c.715G>A
ENST00000372887.5:c.152-1039C>T
ENST00000464097.5:n.465G>A
ENST00000492931.5:n.875G>A
ENST00000536532.5:c.715G>A
ENST00000537820.1:c.643G>A
ENST00000539235.5:c.*99G>A
NM_000022.2:c.715G>A
NM_000022.3:c.715G>A
NM_001322050.1:c.310G>A
NM_001322051.1:c.643G>A
NR_136160.1:n.866G>A
NM_001322050.2:c.310G>A
NM_001322051.2:c.643G>A
NR_136160.2:n.807G>A
More

Uncertain Significance

Met criteria codes 2
PM5_Supporting PM2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Severe Combined Immunodeficiency Disease VCEP
NM_000022.4(ADA):c.715G>A is a missense variant predicted to cause substitution of Glycine by Serine at amino acid 239 (p.Gly239Ser). The filtering allele frequency (the upper threshold of the 95% CI of 9/44902) of the c.715G>A variant in ADA is 0.00008198 for East Asian chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold 0.0001742 for PM2_Supporting, and therefore meets this criterion (PM2_Supporting). Another missense variant [c.716G>A], p.Gly239Asp] in the same codon has been classified as likely pathogenic for SCID by the ClinGen SCID VCEP (PM5_Supporting). Based on the above evidence, this variant may be classified as variant of uncertain significance for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP(specification version 1.0): PM2_Supporting,PM5_Supporting.
Met criteria codes
PM5_Supporting
Another missense variant [c.716G>A], [p.Gly239Asp] in the same codon has been classified as likely pathogenic for SCID by the ClinGen SCID VCEP (PM5_Supporting).
PM2_Supporting
The filtering allele frequency (the upper threshold of the 95% CI of 9/44902) of the c.715G>A variant in ADA is 0.00008198 for East Asian chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold 0.0001742 for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).
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.