rs201537260
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015140.4(TTLL12):c.1756A>T(p.Met586Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000282 in 1,419,626 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M586V) has been classified as Uncertain significance.
Frequency
Consequence
NM_015140.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTLL12 | NM_015140.4 | c.1756A>T | p.Met586Leu | missense_variant | Exon 13 of 14 | ENST00000216129.7 | NP_055955.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTLL12 | ENST00000216129.7 | c.1756A>T | p.Met586Leu | missense_variant | Exon 13 of 14 | 1 | NM_015140.4 | ENSP00000216129.6 | ||
TTLL12 | ENST00000494035.1 | c.19A>T | p.Met7Leu | missense_variant | Exon 3 of 4 | 2 | ENSP00000476297.1 | |||
TTLL12 | ENST00000484711.1 | n.887A>T | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000282 AC: 4AN: 1419626Hom.: 0 Cov.: 30 AF XY: 0.00000142 AC XY: 1AN XY: 702386
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.