4-146909170-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031956.4(TTC29):c.256G>C(p.Ala86Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000161 in 1,613,640 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031956.4 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 |
---|---|---|---|---|---|---|---|
TTC29 | NM_031956.4 | c.256G>C | p.Ala86Pro | missense_variant | 5/13 | ENST00000325106.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC29 | ENST00000325106.9 | c.256G>C | p.Ala86Pro | missense_variant | 5/13 | 1 | NM_031956.4 | P4 | |
TTC29 | ENST00000508306.5 | c.256G>C | p.Ala86Pro | missense_variant, NMD_transcript_variant | 5/14 | 1 | |||
TTC29 | ENST00000513335.5 | c.334G>C | p.Ala112Pro | missense_variant | 6/14 | 2 | |||
TTC29 | ENST00000504425.5 | c.256G>C | p.Ala86Pro | missense_variant | 5/13 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000246 AC: 61AN: 248466Hom.: 0 AF XY: 0.000208 AC XY: 28AN XY: 134794
GnomAD4 exome AF: 0.000161 AC: 235AN: 1461534Hom.: 1 Cov.: 31 AF XY: 0.000173 AC XY: 126AN XY: 727060
GnomAD4 genome ? AF: 0.000164 AC: 25AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.256G>C (p.A86P) alteration is located in exon 5 (coding exon 3) of the TTC29 gene. This alteration results from a G to C substitution at nucleotide position 256, causing the alanine (A) at amino acid position 86 to be replaced by a proline (P). 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