6-13301685-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_134872.2(TBC1D7-LOC100130357):n.610-6787G>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.494 in 152,110 control chromosomes in the GnomAD database, including 19,639 homozygotes. 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
NR_134872.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBC1D7-LOC100130357 | NR_134872.2 | n.610-6787G>C | intron_variant, non_coding_transcript_variant | ||||
TBC1D7-LOC100130357 | NM_001318809.2 | c.*39+3377G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBC1D7 | ENST00000606214.5 | c.*39+3377G>C | intron_variant | 5 | P1 | ||||
TBC1D7 | ENST00000421203.6 | c.520-6787G>C | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.494 AC: 75017AN: 151992Hom.: 19605 Cov.: 32
GnomAD4 genome AF: 0.494 AC: 75104AN: 152110Hom.: 19639 Cov.: 32 AF XY: 0.499 AC XY: 37104AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at