1-2641802-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001242672.3(TTC34):āc.2806A>Cā(p.Ser936Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000345 in 1,535,222 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001242672.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTC34 | NM_001242672.3 | c.2806A>C | p.Ser936Arg | missense_variant | 9/9 | ENST00000401095.9 | NP_001229601.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTC34 | ENST00000401095.9 | c.2806A>C | p.Ser936Arg | missense_variant | 9/9 | 5 | NM_001242672.3 | ENSP00000383873 | P1 | |
TTC34 | ENST00000637179.1 | c.1267A>C | p.Ser423Arg | missense_variant | 7/7 | 5 | ENSP00000490537 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152200Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000458 AC: 6AN: 130970Hom.: 0 AF XY: 0.0000559 AC XY: 4AN XY: 71530
GnomAD4 exome AF: 0.0000333 AC: 46AN: 1382904Hom.: 1 Cov.: 36 AF XY: 0.0000322 AC XY: 22AN XY: 682340
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152318Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.1267A>C (p.S423R) alteration is located in exon 7 (coding exon 7) of the TTC34 gene. This alteration results from a A to C substitution at nucleotide position 1267, causing the serine (S) at amino acid position 423 to be replaced by an arginine (R). 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