3-195571307-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001647.4(APOD):c.304C>G(p.Pro102Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00028 in 1,614,100 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001647.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000505 AC: 127AN: 251488Hom.: 0 AF XY: 0.000581 AC XY: 79AN XY: 135918
GnomAD4 exome AF: 0.000282 AC: 412AN: 1461868Hom.: 3 Cov.: 31 AF XY: 0.000344 AC XY: 250AN XY: 727236
GnomAD4 genome AF: 0.000263 AC: 40AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.304C>G (p.P102A) alteration is located in exon 4 (coding exon 3) of the APOD gene. This alteration results from a C to G substitution at nucleotide position 304, causing the proline (P) at amino acid position 102 to be replaced by an alanine (A). 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