chr6-13364861-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018988.4(GFOD1):c.1055G>A(p.Arg352Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000496 in 1,613,932 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018988.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GFOD1 | NM_018988.4 | c.1055G>A | p.Arg352Lys | missense_variant | Exon 2 of 2 | ENST00000379287.4 | NP_061861.1 | |
GFOD1 | NM_001242628.2 | c.746G>A | p.Arg249Lys | missense_variant | Exon 2 of 2 | NP_001229557.1 | ||
GFOD1 | NM_001242630.2 | c.746G>A | p.Arg249Lys | missense_variant | Exon 2 of 2 | NP_001229559.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GFOD1 | ENST00000379287.4 | c.1055G>A | p.Arg352Lys | missense_variant | Exon 2 of 2 | 1 | NM_018988.4 | ENSP00000368589.3 | ||
GFOD1 | ENST00000379284.1 | c.746G>A | p.Arg249Lys | missense_variant | Exon 2 of 2 | 2 | ENSP00000368586.1 | |||
GFOD1 | ENST00000612338.4 | c.746G>A | p.Arg249Lys | missense_variant | Exon 2 of 2 | 2 | ENSP00000479493.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152244Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251090Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135802
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461688Hom.: 1 Cov.: 31 AF XY: 0.0000481 AC XY: 35AN XY: 727174
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1055G>A (p.R352K) alteration is located in exon 2 (coding exon 2) of the GFOD1 gene. This alteration results from a G to A substitution at nucleotide position 1055, causing the arginine (R) at amino acid position 352 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