1-40784271-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004700.4(KCNQ4):āc.178G>Cā(p.Gly60Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000263 in 1,519,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004700.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNQ4 | NM_004700.4 | c.178G>C | p.Gly60Arg | missense_variant | Exon 1 of 14 | ENST00000347132.10 | NP_004691.2 | |
KCNQ4 | NM_172163.3 | c.178G>C | p.Gly60Arg | missense_variant | Exon 1 of 13 | NP_751895.1 | ||
KCNQ4 | XM_047434057.1 | c.178G>C | p.Gly60Arg | missense_variant | Exon 1 of 13 | XP_047290013.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNQ4 | ENST00000347132.10 | c.178G>C | p.Gly60Arg | missense_variant | Exon 1 of 14 | 1 | NM_004700.4 | ENSP00000262916.6 | ||
KCNQ4 | ENST00000509682.6 | c.178G>C | p.Gly60Arg | missense_variant | Exon 1 of 13 | 5 | ENSP00000423756.2 |
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150840Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000219 AC: 3AN: 1368938Hom.: 0 Cov.: 31 AF XY: 0.00000148 AC XY: 1AN XY: 677250
GnomAD4 genome AF: 0.00000663 AC: 1AN: 150840Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73612
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.178G>C (p.G60R) alteration is located in exon 1 (coding exon 1) of the KCNQ4 gene. This alteration results from a G to C substitution at nucleotide position 178, causing the glycine (G) at amino acid position 60 to be replaced by an arginine (R). 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