NM_001194.4:c.79C>G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_001194.4(HCN2):c.79C>G(p.Pro27Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/21 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 Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HCN2 | NM_001194.4 | c.79C>G | p.Pro27Ala | missense_variant | Exon 1 of 8 | ENST00000251287.3 | NP_001185.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000347 AC: 45AN: 129714Hom.: 0 Cov.: 20
GnomAD4 exome AF: 0.0000127 AC: 6AN: 472506Hom.: 0 Cov.: 5 AF XY: 0.00000452 AC XY: 1AN XY: 221414
GnomAD4 genome AF: 0.000347 AC: 45AN: 129674Hom.: 0 Cov.: 20 AF XY: 0.000350 AC XY: 22AN XY: 62936
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.79C>G (p.P27A) alteration is located in exon 1 (coding exon 1) of the HCN2 gene. This alteration results from a C to G substitution at nucleotide position 79, causing the proline (P) at amino acid position 27 to be replaced by an alanine (A). 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