3-180604878-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133462.4(TTC14):c.728C>A(p.Ser243Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000453 in 1,612,568 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 (★).
Frequency
Consequence
NM_133462.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152028Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249536Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135170
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1460540Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 726620
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152028Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.728C>A (p.S243Y) alteration is located in exon 6 (coding exon 6) of the TTC14 gene. This alteration results from a C to A substitution at nucleotide position 728, causing the serine (S) at amino acid position 243 to be replaced by a tyrosine (Y). 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