rs1060499864
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001194.4(HCN2):c.2332G>A(p.Ala778Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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. A778P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001194.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HCN2 | NM_001194.4 | c.2332G>A | p.Ala778Thr | missense_variant | 8/8 | ENST00000251287.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCN2 | ENST00000251287.3 | c.2332G>A | p.Ala778Thr | missense_variant | 8/8 | 1 | NM_001194.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 2AN: 17452Hom.: 0 Cov.: 0 FAILED QC
GnomAD4 exome AF: 0.0000631 AC: 15AN: 237876Hom.: 0 Cov.: 5 AF XY: 0.0000544 AC XY: 6AN XY: 110346
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.000115 AC: 2AN: 17452Hom.: 0 Cov.: 0 AF XY: 0.000119 AC XY: 1AN XY: 8406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at