2-162371933-C-T
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_033272.4(KCNH7):c.3487G>A(p.Val1163Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000979 in 1,613,734 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033272.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152120Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000359 AC: 9AN: 250916 AF XY: 0.0000369 show subpopulations
GnomAD4 exome AF: 0.0000951 AC: 139AN: 1461614Hom.: 0 Cov.: 31 AF XY: 0.0000839 AC XY: 61AN XY: 727116 show subpopulations
GnomAD4 genome AF: 0.000125 AC: 19AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74300 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3487G>A (p.V1163I) alteration is located in exon 16 (coding exon 16) of the KCNH7 gene. This alteration results from a G to A substitution at nucleotide position 3487, causing the valine (V) at amino acid position 1163 to be replaced by an isoleucine (I). 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