chr3-180604857-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_133462.4(TTC14):c.707G>A(p.Ser236Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000455 in 1,605,764 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S236T) has been classified as Uncertain significance.
Frequency
Consequence
NM_133462.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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>A | p.Ser236Asn | missense_variant | 6/12 | ENST00000296015.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC14 | ENST00000296015.9 | c.707G>A | p.Ser236Asn | missense_variant | 6/12 | 1 | NM_133462.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000288 AC: 7AN: 243184Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 131994
GnomAD4 exome AF: 0.0000475 AC: 69AN: 1453590Hom.: 0 Cov.: 31 AF XY: 0.0000456 AC XY: 33AN XY: 723132
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 03, 2023 | The c.707G>A (p.S236N) alteration is located in exon 6 (coding exon 6) of the TTC14 gene. This alteration results from a G to A substitution at nucleotide position 707, causing the serine (S) at amino acid position 236 to be replaced by an asparagine (N). 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