NM_004700.4:c.*7T>C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_004700.4(KCNQ4):c.*7T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000057 in 1,613,550 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 (★).
Frequency
Consequence
NM_004700.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNQ4 | NM_004700.4 | c.*7T>C | 3_prime_UTR_variant | Exon 14 of 14 | ENST00000347132.10 | NP_004691.2 | ||
KCNQ4 | NM_172163.3 | c.*7T>C | 3_prime_UTR_variant | Exon 13 of 13 | NP_751895.1 | |||
KCNQ4 | XM_017002792.2 | c.*7T>C | 3_prime_UTR_variant | Exon 11 of 11 | XP_016858281.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNQ4 | ENST00000347132.10 | c.*7T>C | 3_prime_UTR_variant | Exon 14 of 14 | 1 | NM_004700.4 | ENSP00000262916.6 | |||
KCNQ4 | ENST00000443478.3 | c.*7T>C | 3_prime_UTR_variant | Exon 13 of 13 | 5 | ENSP00000406735.3 | ||||
KCNQ4 | ENST00000506017.1 | n.1414T>C | non_coding_transcript_exon_variant | Exon 11 of 11 | 2 | |||||
KCNQ4 | ENST00000509682.6 | c.*7T>C | downstream_gene_variant | 5 | ENSP00000423756.2 |
Frequencies
GnomAD3 genomes AF: 0.000335 AC: 51AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251100Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135822
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461240Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 726996
GnomAD4 genome AF: 0.000328 AC: 50AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.000269 AC XY: 20AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.*7T>C variant in KCNQ4 has not been previously reported in individuals wit h hearing loss, but has been identified in 9/10338 African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs537008 263). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out a pathogenic role. This variant occurs in the 3' untranslated region (3' UTR) and does not affect the coding sequence of the gene. Although this region can contain elements that regulate mRNA, there is no obvious predicted effect of this variant. In summary, the clinical significance of the c.*7T>C variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at