11-2445455-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000218.3(KCNQ1):c.357C>A(p.Gly119=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. G119G) has been classified as Uncertain significance.
Frequency
Consequence
NM_000218.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNQ1 | NM_000218.3 | c.357C>A | p.Gly119= | synonymous_variant | 1/16 | ENST00000155840.12 | |
KCNQ1 | NM_001406836.1 | c.357C>A | p.Gly119= | synonymous_variant | 1/15 | ||
KCNQ1 | NM_001406838.1 | c.357C>A | p.Gly119= | synonymous_variant | 1/11 | ||
KCNQ1 | NM_001406837.1 | c.-6C>A | 5_prime_UTR_variant | 1/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNQ1 | ENST00000155840.12 | c.357C>A | p.Gly119= | synonymous_variant | 1/16 | 1 | NM_000218.3 | P1 | |
KCNQ1 | ENST00000345015.4 | n.134C>A | non_coding_transcript_exon_variant | 1/3 | 1 | ||||
KCNQ1 | ENST00000496887.7 | c.96C>A | p.Gly32= | synonymous_variant | 2/16 | 5 | |||
KCNQ1 | ENST00000646564.2 | c.357C>A | p.Gly119= | synonymous_variant | 1/11 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at