Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000022.4(ADA):c.192G>A (p.Lys64=)

CA9871743

719476 (ClinVar)

Gene: ADA (HGNC:100)

Condition: adenosine deaminase deficiency (MONDO:0007064)

Inheritance Mode: Autosomal recessive inheritance

UUID: 7ff99571-d16b-4165-bb4e-8b98ebbd25f0

Approved on: 2024-01-17

Published on: 2024-01-17

HGVS expressions

NM_000022.4(ADA):c.192G>A (p.Lys64=)

NM_000022.4:c.192G>A

NC_000020.11:g.44629073C>T

CM000682.2:g.44629073C>T

NC_000020.10:g.43257714C>T

CM000682.1:g.43257714C>T

NC_000020.9:g.42691128C>T

NG_007385.1:g.27663G>A

ENST00000372874.9:c.192G>A

ENST00000372874.8:c.192G>A

ENST00000492931.5:n.276G>A

ENST00000536076.1:n.372G>A

ENST00000536532.5:c.192G>A

ENST00000537820.1:c.192G>A

ENST00000539235.5:c.192G>A

ENST00000545776.5:n.246G>A

NM_000022.2:c.192G>A

NM_000022.3:c.192G>A

NM_001322050.1:c.-98G>A

NM_001322051.1:c.192G>A

NR_136160.1:n.343G>A

NM_001322050.2:c.-98G>A

NM_001322051.2:c.192G>A

NR_136160.2:n.284G>A

Likely Benign

BS1 BP7

BS2

Evidence Links 0

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

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

The c.192G>A (p.Lys64=) variant (NM_000022.4) in ADA is a synonymous (silent) variant that is not predicted by SpliceAI and varSEAK to impact splicing (BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.002796 (67/19946 alleles) in the East Asian population, which is higher than the ClinGen SCID VCEP threshold (>0.00161) for BS1 and therefore meets this criterion (BS1). In summary, this variant is classified as Likely Benign for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): BP7 and BS1.

BS1

The highest population minor allele frequency in gnomAD v2.1.1 is 0.002796 (67/19946 alleles) in East Asian population, which is higher than the ClinGen SCID VCEP threshold (>0.00161) for BS1, and therefore meets this criterion (BS1).

BP7

The c.192G>A (p.Lys64=) variant (NM_000022.4) in ADA is a synonymous (silent) variant that is not predicted by SpliceAI and varSEAK to impact splicing (BP7).

BS2

No homozygous has been described in gnomAD v2.1.1.

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.