chr7-66628895-G-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_153033.5(KCTD7):c.-170G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000207 in 530,728 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.
Frequency
Consequence
NM_153033.5 5_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- progressive myoclonic epilepsy type 3Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: Genomics England PanelApp, Ambry Genetics, G2P, Labcorp Genetics (formerly Invitae), Orphanet
- progressive myoclonus epilepsyInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCTD7 | NM_153033.5 | c.-170G>C | 5_prime_UTR_variant | Exon 1 of 4 | ENST00000639828.2 | NP_694578.1 | ||
KCTD7 | NM_001167961.2 | c.-170G>C | 5_prime_UTR_variant | Exon 1 of 5 | NP_001161433.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152048Hom.: 0 Cov.: 30 show subpopulations
GnomAD4 exome AF: 0.0000185 AC: 7AN: 378680Hom.: 0 Cov.: 5 AF XY: 0.0000103 AC XY: 2AN XY: 194540 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152048Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74260 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at