chr7-66638349-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_153033.5(KCTD7):c.411C>G(p.Leu137Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. L137L) has been classified as Likely benign.
Frequency
Consequence
NM_153033.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCTD7 | NM_153033.5 | c.411C>G | p.Leu137Leu | synonymous_variant | Exon 3 of 4 | ENST00000639828.2 | NP_694578.1 | |
KCTD7 | NM_001167961.2 | c.411C>G | p.Leu137Leu | synonymous_variant | Exon 3 of 5 | NP_001161433.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCTD7 | ENST00000639828.2 | c.411C>G | p.Leu137Leu | synonymous_variant | Exon 3 of 4 | 2 | NM_153033.5 | ENSP00000492240.1 | ||
ENSG00000284461 | ENST00000503687.2 | n.241C>G | non_coding_transcript_exon_variant | Exon 2 of 13 | 2 | ENSP00000421074.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at