rs1260243604
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001137548.3(FAM25C):c.263G>T(p.Gly88Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000135 in 148,016 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G88E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001137548.3 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: 0.0000135 AC: 2AN: 148016Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.00000697 AC: 1AN: 143374Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 76524
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.32e-7 AC: 1AN: 1366624Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 675024
GnomAD4 genome AF: 0.0000135 AC: 2AN: 148016Hom.: 0 Cov.: 29 AF XY: 0.0000139 AC XY: 1AN XY: 71986
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at