rs1060500095
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_ModerateBP6_ModerateBS2
The NM_021072.4(HCN1):c.128C>T(p.Pro43Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000702 in 1,324,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P43Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_021072.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HCN1 | NM_021072.4 | c.128C>T | p.Pro43Leu | missense_variant | 1/8 | ENST00000303230.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCN1 | ENST00000303230.6 | c.128C>T | p.Pro43Leu | missense_variant | 1/8 | 1 | NM_021072.4 | P2 | |
HCN1 | ENST00000673735.1 | c.128C>T | p.Pro43Leu | missense_variant | 1/9 | A2 | |||
HCN1 | ENST00000634658.1 | c.128C>T | p.Pro43Leu | missense_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000134 AC: 2AN: 149498Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000431 AC: 1AN: 23184Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 14862
GnomAD4 exome AF: 0.0000774 AC: 91AN: 1175170Hom.: 0 Cov.: 32 AF XY: 0.0000733 AC XY: 42AN XY: 573228
GnomAD4 genome ? AF: 0.0000134 AC: 2AN: 149498Hom.: 0 Cov.: 32 AF XY: 0.0000274 AC XY: 2AN XY: 72898
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 17, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at