21-37088235-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330683.2(TTC3):c.227C>T(p.Ser76Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000993 in 1,612,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330683.2 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 |
---|---|---|---|---|---|---|---|
TTC3 | NM_001330683.2 | c.227C>T | p.Ser76Phe | missense_variant | 4/46 | ENST00000418766.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC3 | ENST00000418766.6 | c.227C>T | p.Ser76Phe | missense_variant | 4/46 | 5 | NM_001330683.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152122Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250976Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135644
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459820Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726160
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 11, 2021 | The c.227C>T (p.S76F) alteration is located in exon 4 (coding exon 3) of the TTC3 gene. This alteration results from a C to T substitution at nucleotide position 227, causing the serine (S) at amino acid position 76 to be replaced by a phenylalanine (F). 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