chr3-180604857-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_133462.4(TTC14):āc.707G>Cā(p.Ser236Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000344 in 1,453,590 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S236N) has been classified as Uncertain significance.
Frequency
Consequence
NM_133462.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTC14 | NM_133462.4 | c.707G>C | p.Ser236Thr | missense_variant | 6/12 | ENST00000296015.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC14 | ENST00000296015.9 | c.707G>C | p.Ser236Thr | missense_variant | 6/12 | 1 | NM_133462.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1453590Hom.: 0 Cov.: 31 AF XY: 0.00000415 AC XY: 3AN XY: 723132
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2022 | The c.707G>C (p.S236T) alteration is located in exon 6 (coding exon 6) of the TTC14 gene. This alteration results from a G to C substitution at nucleotide position 707, causing the serine (S) at amino acid position 236 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.