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_001100.4(ACTA1):c.809-13dup

CA147047

93551 (ClinVar)

Gene: ACTA1
Condition: alpha-actinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 65ec9b04-e271-4829-9803-389c2b75987b
Approved on: 2024-08-07
Published on: 2024-12-19

HGVS expressions

NM_001100.4:c.809-13dup
NM_001100.4(ACTA1):c.809-13dup
NC_000001.11:g.229431915dup
CM000663.2:g.229431915dup
NC_000001.10:g.229567662dup
CM000663.1:g.229567662dup
NC_000001.9:g.227634285dup
NG_006672.1:g.7183dup
ENST00000366683.4:c.809-12dup
ENST00000684723.1:c.674-12dup
ENST00000366683.3:c.480-52dup
ENST00000366684.7:c.809-12dup
NM_001100.3:c.809-12dup
NM_001100.4:c.809-12dup
More

Benign

Met criteria codes 3
BA1 BP7 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Congenital Myopathies VCEP
The NM_001100.4(ACTA1):c.809-13dup variant in ACTA1 is an intronic variant which is located in the 3’ non-canonical splice site of intron 5. The highest population filtering allele frequency in gnomAD v4.1.0 is 0.2123 (1318/5930) in the Middle Eastern population, which is higher than the ClinGen Congenital Myopathies VCEP threshold for BA1, and therefore meets this criterion (BA1). The c.809-13dup is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by the UCSC Genome Browser (BP4, BP7). In summary, this variant meets the criteria to be classified as benign for alpha-actinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen Congenital Myopathies VCEP: BA1, BP4, BP7 (ClinGen Congenital Myopathies VCEP specifications version 1; 08/07/2024).
Met criteria codes
BA1
The highest population filtering allele frequency in gnomAD v4.1.0 is 0.2123 (1318/5930) in the Middle Eastern population, which is higher than the ClinGen Congenital Myopathies VCEP threshold for BA1, and therefore meets this criterion (BA1).
BP7
The c.809-13dup is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by the UCSC Genome Browser (BP4, BP7).
BP4
The c.809-13dup is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by the UCSC Genome Browser (BP4, BP7).
Curation History
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