chr19-38647968-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004924.6(ACTN4):c.162+61T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.517 in 1,171,018 control chromosomes in the GnomAD database, including 151,168 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004924.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACTN4 | NM_004924.6 | c.162+61T>C | intron_variant | Intron 1 of 20 | ENST00000252699.7 | NP_004915.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.411 AC: 52201AN: 126904Hom.: 11130 Cov.: 24
GnomAD4 exome AF: 0.530 AC: 553190AN: 1044060Hom.: 140046 Cov.: 21 AF XY: 0.526 AC XY: 267585AN XY: 508268
GnomAD4 genome AF: 0.411 AC: 52174AN: 126958Hom.: 11122 Cov.: 24 AF XY: 0.410 AC XY: 25287AN XY: 61750
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 39. Only high quality variants are reported. -
Focal segmental glomerulosclerosis 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at