chr6-13365339-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018988.4(GFOD1):āc.577G>Cā(p.Val193Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,614,072 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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. V193I) has been classified as Uncertain significance.
Frequency
Consequence
NM_018988.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.577G>C | p.Val193Leu | missense_variant | Exon 2 of 2 | ENST00000379287.4 | NP_061861.1 | |
GFOD1 | NM_001242628.2 | c.268G>C | p.Val90Leu | missense_variant | Exon 2 of 2 | NP_001229557.1 | ||
GFOD1 | NM_001242630.2 | c.268G>C | p.Val90Leu | 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.577G>C | p.Val193Leu | missense_variant | Exon 2 of 2 | 1 | NM_018988.4 | ENSP00000368589.3 | ||
GFOD1 | ENST00000379284.1 | c.268G>C | p.Val90Leu | missense_variant | Exon 2 of 2 | 2 | ENSP00000368586.1 | |||
GFOD1 | ENST00000612338.4 | c.268G>C | p.Val90Leu | missense_variant | Exon 2 of 2 | 2 | ENSP00000479493.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251174Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135826
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at