rs7697691
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000670601.1(ENSG00000287948):n.124+4215C>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 0.797 in 152,144 control chromosomes in the GnomAD database, including 48,582 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
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.-399-43683G>A | intron_variant | ||||
TENM3 | XM_017008389.2 | c.-399-43683G>A | intron_variant | ||||
TENM3 | XM_017008390.2 | c.-399-43683G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000670601.1 | n.124+4215C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.797 AC: 121221AN: 152026Hom.: 48533 Cov.: 33
GnomAD4 genome ? AF: 0.797 AC: 121324AN: 152144Hom.: 48582 Cov.: 33 AF XY: 0.794 AC XY: 59075AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at