rs13115107
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000513201.1(TENM3):n.175+52606A>G 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 0.211 in 152,180 control chromosomes in the GnomAD database, including 4,153 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
ENST00000513201.1 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 |
---|---|---|---|---|---|---|---|
TENM3 | NM_001415966.1 | c.-76+52013A>G | intron_variant | ||||
TENM3 | NM_001415967.1 | c.-76+52013A>G | intron_variant | ||||
TENM3 | NM_001415968.1 | c.-76+52013A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TENM3 | ENST00000513201.1 | n.175+52606A>G | intron_variant, non_coding_transcript_variant | 1 | |||||
TENM3 | ENST00000512480.5 | c.-76+52013A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.211 AC: 32138AN: 152062Hom.: 4152 Cov.: 33
GnomAD4 genome ? AF: 0.211 AC: 32136AN: 152180Hom.: 4153 Cov.: 33 AF XY: 0.205 AC XY: 15253AN XY: 74406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at