3-180602935-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133462.4(TTC14):c.206C>T(p.Ser69Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000651 in 1,613,326 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: 0.000375 AC: 57AN: 151968Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000279 AC: 70AN: 250670Hom.: 0 AF XY: 0.000302 AC XY: 41AN XY: 135554
GnomAD4 exome AF: 0.000680 AC: 994AN: 1461358Hom.: 0 Cov.: 31 AF XY: 0.000691 AC XY: 502AN XY: 726914
GnomAD4 genome AF: 0.000375 AC: 57AN: 151968Hom.: 0 Cov.: 32 AF XY: 0.000391 AC XY: 29AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.206C>T (p.S69F) alteration is located in exon 2 (coding exon 2) of the TTC14 gene. This alteration results from a C to T substitution at nucleotide position 206, causing the serine (S) at amino acid position 69 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