6-13294772-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001318809.2(TBC1D7-LOC100130357):c.*39+10290G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000916 in 1,091,790 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_001318809.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBC1D7-LOC100130357 | NM_001318809.2 | c.*39+10290G>C | intron_variant | NP_001305738.1 | ||||
TBC1D7-LOC100130357 | NR_134872.2 | n.712+24G>C | intron_variant | |||||
LOC100130357 | NR_160971.1 | n.318+24G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBC1D7 | ENST00000606214.5 | c.*39+10290G>C | intron_variant | 5 | ENSP00000475727.1 | |||||
TBC1D7 | ENST00000421203.6 | n.*82+24G>C | intron_variant | 2 | ENSP00000401438.2 | |||||
ENSG00000215022 | ENST00000606150.5 | n.318+24G>C | intron_variant | 2 | ||||||
ENSG00000215022 | ENST00000612479.1 | n.140+24G>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000720 AC: 1AN: 138912Hom.: 0 AF XY: 0.0000133 AC XY: 1AN XY: 74940
GnomAD4 exome AF: 9.16e-7 AC: 1AN: 1091790Hom.: 0 Cov.: 17 AF XY: 0.00000186 AC XY: 1AN XY: 538044
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at