rs6815990
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000505389.1(ENSG00000248266):n.121-16052C>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 0.6 in 151,720 control chromosomes in the GnomAD database, including 27,847 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 | NM_001415966.1 | c.-76+29411C>T | intron_variant | ||||
TENM3 | NM_001415967.1 | c.-76+29411C>T | intron_variant | ||||
TENM3 | NM_001415968.1 | c.-76+29411C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000505389.1 | n.121-16052C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
TENM3 | ENST00000513201.1 | n.175+30004C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
TENM3 | ENST00000512480.5 | c.-76+29411C>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.601 AC: 91047AN: 151602Hom.: 27829 Cov.: 31
GnomAD4 genome AF: 0.600 AC: 91096AN: 151720Hom.: 27847 Cov.: 31 AF XY: 0.597 AC XY: 44225AN XY: 74134
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at