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.201C>G (p.Tyr67Ter)

CA409121739

1075328 (ClinVar)

Gene: ADA (HGNC:100)

Condition: adenosine deaminase deficiency (MONDO:0007064)

Inheritance Mode: Autosomal recessive inheritance

UUID: 22a9fb83-de28-42e2-9a6a-8823273ab3b6

Approved on: 2024-01-16

Published on: 2024-01-16

HGVS expressions

NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)

NM_000022.4:c.201C>G

NC_000020.11:g.44629064G>C

CM000682.2:g.44629064G>C

NC_000020.10:g.43257705G>C

CM000682.1:g.43257705G>C

NC_000020.9:g.42691119G>C

NG_007385.1:g.27672C>G

ENST00000372874.9:c.201C>G

ENST00000372874.8:c.201C>G

ENST00000492931.5:n.285C>G

ENST00000536076.1:n.381C>G

ENST00000536532.5:c.201C>G

ENST00000537820.1:c.201C>G

ENST00000539235.5:c.201C>G

ENST00000545776.5:n.255C>G

NM_000022.2:c.201C>G

NM_000022.3:c.201C>G

NM_001322050.1:c.-89C>G

NM_001322051.1:c.201C>G

NR_136160.1:n.352C>G

NM_001322050.2:c.-89C>G

NM_001322051.2:c.201C>G

NR_136160.2:n.293C>G

Likely Pathogenic

PM2_Supporting PVS1

PP4

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 NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) variant in ADA is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 3/12 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported in ClinVar without patient information; however, it has not been reported in the literature to our knowledge. In summary, this variant meets the criteria to be classified as Likely Pathogenic for SCID. ACMG/AMP criteria applied, as specified by the ClinGen SCID-VCEP: PVS1 and PM2_Supporting (VCEP specifications version 1).

PM2_Supporting

This variant is absent from gnomAD v2.1.1 (PM2_Supporting).

PVS1

The c.201C>G (p.Tyr67Ter)(NM_000022.4) variant in ADA is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 3/12 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1).

PP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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