rs9993255
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000509012.5(TENM3-AS1):n.378+64975C>T 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 0.295 in 151,874 control chromosomes in the GnomAD database, including 7,278 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
ENST00000509012.5 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 | XM_017008385.2 | c.-156+79855G>A | intron_variant | ||||
TENM3 | XM_017008389.2 | c.-156+79855G>A | intron_variant | ||||
TENM3 | XM_017008390.2 | c.-156+79855G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TENM3-AS1 | ENST00000509012.5 | n.378+64975C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.295 AC: 44704AN: 151756Hom.: 7255 Cov.: 32
GnomAD4 genome ? AF: 0.295 AC: 44768AN: 151874Hom.: 7278 Cov.: 32 AF XY: 0.289 AC XY: 21463AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at