1-40837720-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004700.4(KCNQ4):c.1801G>T(p.Asp601Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. D601D) has been classified as Likely benign.
Frequency
Consequence
NM_004700.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNQ4 | ENST00000347132.10 | c.1801G>T | p.Asp601Tyr | missense_variant | Exon 13 of 14 | 1 | NM_004700.4 | ENSP00000262916.6 | ||
KCNQ4 | ENST00000509682.6 | c.1639G>T | p.Asp547Tyr | missense_variant | Exon 12 of 13 | 5 | ENSP00000423756.2 | |||
KCNQ4 | ENST00000443478.3 | c.1381G>T | p.Asp461Tyr | missense_variant | Exon 12 of 13 | 5 | ENSP00000406735.3 | |||
KCNQ4 | ENST00000506017.1 | n.1120G>T | non_coding_transcript_exon_variant | Exon 10 of 11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461056Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726758
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.Asp601Tyr variant in KCNQ4 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Asp601Tyr vari ant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at