7-100868660-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003302.3(TRIP6):c.529C>T(p.Pro177Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,456,930 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_003302.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000417 AC: 1AN: 239716Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131666
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456930Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724240
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.P177S) alteration is located in exon 4 (coding exon 4) of the TRIP6 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the proline (P) at amino acid position 177 to be replaced by a serine (S). 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