rs145211830
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_001614.5(ACTG1):c.18C>T(p.Ala6Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00186 in 1,613,960 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001614.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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ACTG1 | NM_001614.5 | c.18C>T | p.Ala6Ala | synonymous_variant | Exon 2 of 6 | ENST00000573283.7 | NP_001605.1 | |
ACTG1 | NM_001199954.3 | c.18C>T | p.Ala6Ala | synonymous_variant | Exon 2 of 6 | NP_001186883.1 | ||
ACTG1 | NR_037688.3 | n.90C>T | non_coding_transcript_exon_variant | Exon 2 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00129 AC: 196AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00109 AC: 275AN: 251362Hom.: 0 AF XY: 0.00116 AC XY: 157AN XY: 135886
GnomAD4 exome AF: 0.00192 AC: 2805AN: 1461690Hom.: 7 Cov.: 37 AF XY: 0.00190 AC XY: 1378AN XY: 727162
GnomAD4 genome AF: 0.00129 AC: 196AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.00109 AC XY: 81AN XY: 74458
ClinVar
Submissions by phenotype
not specified Benign:2
p.Ala6Ala in exon 2 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (251/ 126672) o f European chromosomes by the Exome Genome Aggregation Database (http://gnomad.b roadinstitute.org/; dbSNP rs145211830). -
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not provided Benign:2
ACTG1: BP4, BP7, BS1 -
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Autosomal dominant nonsyndromic hearing loss 20 Benign:1
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Autosomal dominant nonsyndromic hearing loss 20;C3281235:Baraitser-winter syndrome 2 Benign:1
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Baraitser-winter syndrome 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at