22-43168102-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015140.4(TTLL12):c.1841G>A(p.Arg614Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000675 in 1,614,162 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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.1841G>A | p.Arg614Gln | missense_variant | Exon 14 of 14 | ENST00000216129.7 | NP_055955.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTLL12 | ENST00000216129.7 | c.1841G>A | p.Arg614Gln | missense_variant | Exon 14 of 14 | 1 | NM_015140.4 | ENSP00000216129.6 | ||
TTLL12 | ENST00000494035.1 | c.104G>A | p.Arg35Gln | missense_variant | Exon 4 of 4 | 2 | ENSP00000476297.1 | |||
TTLL12 | ENST00000484711.1 | n.972G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000797 AC: 20AN: 250970Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135734
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461838Hom.: 0 Cov.: 30 AF XY: 0.0000523 AC XY: 38AN XY: 727228
GnomAD4 genome AF: 0.000184 AC: 28AN: 152324Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1841G>A (p.R614Q) alteration is located in exon 14 (coding exon 14) of the TTLL12 gene. This alteration results from a G to A substitution at nucleotide position 1841, causing the arginine (R) at amino acid position 614 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at