rs1333592164
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020897.3(HCN3):c.883G>A(p.Gly295Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,612,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G295C) has been classified as Uncertain significance.
Frequency
Consequence
NM_020897.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HCN3 | ENST00000368358.4 | c.883G>A | p.Gly295Ser | missense_variant | Exon 4 of 8 | 1 | NM_020897.3 | ENSP00000357342.3 | ||
HCN3 | ENST00000467204.1 | n.316G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 5 | |||||
HCN3 | ENST00000496230.5 | n.1178G>A | non_coding_transcript_exon_variant | Exon 3 of 8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250726Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135468
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459822Hom.: 0 Cov.: 31 AF XY: 0.00000689 AC XY: 5AN XY: 726144
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at