10-47999714-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001137548.3(FAM25C):c.52G>A(p.Glu18Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001137548.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 10AN: 150444Hom.: 0 Cov.: 21 FAILED QC
GnomAD3 exomes AF: 0.0000579 AC: 4AN: 69036Hom.: 0 AF XY: 0.0000290 AC XY: 1AN XY: 34490
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000596 AC: 83AN: 1391774Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 37AN XY: 686572
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000664 AC: 10AN: 150562Hom.: 0 Cov.: 21 AF XY: 0.0000544 AC XY: 4AN XY: 73470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.52G>A (p.E18K) alteration is located in exon 1 (coding exon 1) of the FAM25C gene. This alteration results from a G to A substitution at nucleotide position 52, causing the glutamic acid (E) at amino acid position 18 to be replaced by a lysine (K). 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