1-40835018-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_004700.4(KCNQ4):c.1665G>C(p.Pro555=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,854 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P555P) has been classified as Benign.
Frequency
Consequence
NM_004700.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNQ4 | NM_004700.4 | c.1665G>C | p.Pro555= | synonymous_variant | 12/14 | ENST00000347132.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNQ4 | ENST00000347132.10 | c.1665G>C | p.Pro555= | synonymous_variant | 12/14 | 1 | NM_004700.4 | P2 | |
KCNQ4 | ENST00000509682.6 | c.1503G>C | p.Pro501= | synonymous_variant | 11/13 | 5 | A1 | ||
KCNQ4 | ENST00000443478.3 | c.1248G>C | p.Pro416= | synonymous_variant | 11/13 | 5 | |||
KCNQ4 | ENST00000506017.1 | n.984G>C | non_coding_transcript_exon_variant | 9/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251452Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135916
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727134
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at