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_213599.3(ANO5):c.567A>G (p.Ala189=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA5922947

304099 (ClinVar)

Gene: ANO5

Condition: autosomal recessive limb-girdle muscular dystrophy

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 55a17465-852d-4d5c-9a1b-9787f7f27446

Approved on: 2025-01-09

Published on: 2025-01-09

HGVS expressions

NM_213599.3:c.567A>G

NM_213599.3(ANO5):c.567A>G (p.Ala189=)

NC_000011.10:g.22227505A>G

CM000673.2:g.22227505A>G

NC_000011.9:g.22249051A>G

CM000673.1:g.22249051A>G

NC_000011.8:g.22205627A>G

NG_015844.1:g.39330A>G

ENST00000682266.1:c.117A>G

ENST00000682341.1:c.525A>G

ENST00000682530.1:c.*499A>G

ENST00000682684.1:n.946A>G

ENST00000683197.1:c.525A>G

ENST00000683411.1:c.117A>G

ENST00000683437.1:c.117A>G

ENST00000683613.1:n.1561A>G

ENST00000683834.1:n.767A>G

ENST00000684663.1:c.522A>G

ENST00000324559.9:c.567A>G

ENST00000648804.1:n.1132A>G

ENST00000324559.8:c.567A>G

NM_001142649.1:c.564A>G

NM_213599.2:c.567A>G

NM_001142649.2:c.564A>G

Likely Benign

BS1 BP4 BP7

Evidence Links 0

Expert Panel

Limb Girdle Muscular Dystrophy VCEP

Criteria Specification Information

Criteria Specification: ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ANO5 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Limb Girdle Muscular Dystrophy VCEP

The NM_213599.3: c.567A>G variant in ANO5 is a synonymous (silent) variant that is not expected to change the amino acid sequence, p.(Ala189=). The filtering allele frequency for this variant is 0.001135 for the African/African American population in gnomAD v4.1.0 (the lower threshold of the 95% CI of 115/86256 exome chromosomes), which is greater than the ClinGen LGMD VCEP threshold of 0.001 for BS1, and therefore meets this criterion (BS1). This variant is not located in a splice region, and the SpliceAI prediction score for this variant is 0, which is less than the LGMD threshold of 0.05 (BP4, BP7). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive limb girdle muscular dystrophy based on the ACMG/AMP criteria applied, as specified by the LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/09/2025): BS1, BP4, BP7.

BS1

The filtering allele frequency for this variant is 0.001135 for the African/African American population in gnomAD v4.1.0 (the lower threshold of the 95% CI of 115/86256 exome chromosomes), which is greater than the ClinGen LGMD VCEP threshold of 0.001 for BS1, and therefore meets this criterion (BS1).

BP4

The SpliceAI prediction score for this variant is 0, which is less than the LGMD threshold of 0.10 (BP4, BP7).

BP7

The SpliceAI prediction score for this variant is 0, which is less than the LGMD threshold of 0.10 (BP4, BP7).

Curation History

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