10-97430553-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002629.4(PGAM1):c.314C>G(p.Ala105Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000231 in 1,600,746 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_002629.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000836 AC: 2AN: 239276Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130510
GnomAD4 exome AF: 0.0000242 AC: 35AN: 1448602Hom.: 0 Cov.: 33 AF XY: 0.0000291 AC XY: 21AN XY: 721020
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.314C>G (p.A105G) alteration is located in exon 2 (coding exon 2) of the PGAM1 gene. This alteration results from a C to G substitution at nucleotide position 314, causing the alanine (A) at amino acid position 105 to be replaced by a glycine (G). 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