rs779788281
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_021072.4(HCN1):āc.201T>Cā(p.Gly67=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000114 in 1,444,832 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 (ā ā ). Synonymous variant affecting the same amino acid position (i.e. G67G) has been classified as Likely benign.
Frequency
Consequence
NM_021072.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HCN1 | NM_021072.4 | c.201T>C | p.Gly67= | synonymous_variant | 1/8 | ENST00000303230.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCN1 | ENST00000303230.6 | c.201T>C | p.Gly67= | synonymous_variant | 1/8 | 1 | NM_021072.4 | P2 | |
HCN1 | ENST00000673735.1 | c.201T>C | p.Gly67= | synonymous_variant | 1/9 | A2 | |||
HCN1 | ENST00000634658.1 | c.201T>C | p.Gly67= | synonymous_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000219 AC: 30AN: 136856Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000142 AC: 17AN: 120082Hom.: 0 AF XY: 0.000135 AC XY: 9AN XY: 66606
GnomAD4 exome AF: 0.000102 AC: 134AN: 1307858Hom.: 0 Cov.: 33 AF XY: 0.000105 AC XY: 68AN XY: 645300
GnomAD4 genome AF: 0.000219 AC: 30AN: 136974Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 9AN XY: 67222
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
HCN1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 03, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at