19-590037-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBS1_Supporting
The NM_001194.4(HCN2):c.92C>A(p.Pro31His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HCN2 | NM_001194.4 | c.92C>A | p.Pro31His | missense_variant | Exon 1 of 8 | ENST00000251287.3 | NP_001185.3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 20
GnomAD4 exome AF: 0.00000823 AC: 4AN: 486268Hom.: 0 Cov.: 6 AF XY: 0.00000878 AC XY: 2AN XY: 227700
GnomAD4 genome Cov.: 20
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.92C>A (p.P31H) alteration is located in exon 1 (coding exon 1) of the HCN2 gene. This alteration results from a C to A substitution at nucleotide position 92, causing the proline (P) at amino acid position 31 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.