5-34864553-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144725.4(TTC23L):āc.653C>Gā(p.Ala218Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,326 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_144725.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTC23L | NM_144725.4 | c.653C>G | p.Ala218Gly | missense_variant | 6/11 | ENST00000505624.6 | |
LOC124900959 | XR_007058729.1 | n.581+4327G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC23L | ENST00000505624.6 | c.653C>G | p.Ala218Gly | missense_variant | 6/11 | 1 | NM_144725.4 | A2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248808Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134992
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460326Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726412
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at