rs397517069
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The ENST00000290378.6(ACTC1):c.7G>C(p.Asp3His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. D3D) has been classified as Likely benign.
Frequency
Consequence
ENST00000290378.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACTC1 | NM_005159.5 | c.7G>C | p.Asp3His | missense_variant | 2/7 | ENST00000290378.6 | NP_005150.1 | |
GJD2-DT | NR_120329.1 | n.300-15694C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACTC1 | ENST00000290378.6 | c.7G>C | p.Asp3His | missense_variant | 2/7 | 1 | NM_005159.5 | ENSP00000290378 | P1 | |
GJD2-DT | ENST00000671663.1 | n.95-15694C>G | intron_variant, non_coding_transcript_variant | |||||||
ACTC1 | ENST00000560563.2 | n.113G>C | non_coding_transcript_exon_variant | 2/6 | 2 | |||||
GJD2-DT | ENST00000503496.6 | n.300-15694C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Apr 18, 2014 | The Asp3His variant in ACTC1 has not been previously reported in any other famil ies with cardimyopathy and was absent from large population studies. Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e Asp3His variant is uncertain. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at