14-70642152-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015351.2(TTC9):c.23C>G(p.Ala8Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000257 in 1,171,806 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 (★).
Frequency
Consequence
NM_015351.2 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 |
---|---|---|---|---|---|---|---|
TTC9 | NM_015351.2 | c.23C>G | p.Ala8Gly | missense_variant | 1/3 | ENST00000256367.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC9 | ENST00000256367.3 | c.23C>G | p.Ala8Gly | missense_variant | 1/3 | 1 | NM_015351.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000161 AC: 24AN: 149216Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000100 AC: 1AN: 9990Hom.: 0 AF XY: 0.000200 AC XY: 1AN XY: 4992
GnomAD4 exome AF: 0.000271 AC: 277AN: 1022590Hom.: 0 Cov.: 30 AF XY: 0.000282 AC XY: 136AN XY: 482290
GnomAD4 genome ? AF: 0.000161 AC: 24AN: 149216Hom.: 0 Cov.: 31 AF XY: 0.000124 AC XY: 9AN XY: 72754
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.23C>G (p.A8G) alteration is located in exon 1 (coding exon 1) of the TTC9 gene. This alteration results from a C to G substitution at nucleotide position 23, causing the alanine (A) at amino acid position 8 to be replaced by a glycine (G). 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