7-150945381-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_000238.4(KCNH2):c.3464C>A(p.Ser1155Ter) variant causes a stop gained change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S1155S) has been classified as Likely benign.
Frequency
Consequence
NM_000238.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNH2 | NM_000238.4 | c.3464C>A | p.Ser1155Ter | stop_gained | 15/15 | ENST00000262186.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNH2 | ENST00000262186.10 | c.3464C>A | p.Ser1155Ter | stop_gained | 15/15 | 1 | NM_000238.4 | P1 | |
KCNH2 | ENST00000330883.9 | c.2444C>A | p.Ser815Ter | stop_gained | 11/11 | 1 | |||
KCNH2 | ENST00000684241.1 | n.4297C>A | non_coding_transcript_exon_variant | 13/13 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1438618Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 713454
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at