rs3756772
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002031.3(FRK):c.364G>A(p.Gly122Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.419 in 1,609,432 control chromosomes in the GnomAD database, including 148,027 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002031.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FRK | NM_002031.3 | c.364G>A | p.Gly122Arg | missense_variant | 2/8 | ENST00000606080.2 | NP_002022.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRK | ENST00000606080.2 | c.364G>A | p.Gly122Arg | missense_variant | 2/8 | 1 | NM_002031.3 | ENSP00000476145.1 | ||
ENSG00000289376 | ENST00000692859.2 | n.222+96513G>A | intron_variant |
Frequencies
GnomAD3 genomes AF: 0.383 AC: 58135AN: 151866Hom.: 12319 Cov.: 32
GnomAD3 exomes AF: 0.456 AC: 114228AN: 250442Hom.: 28084 AF XY: 0.462 AC XY: 62519AN XY: 135442
GnomAD4 exome AF: 0.423 AC: 616795AN: 1457448Hom.: 135703 Cov.: 32 AF XY: 0.428 AC XY: 310183AN XY: 725234
GnomAD4 genome AF: 0.383 AC: 58160AN: 151984Hom.: 12324 Cov.: 32 AF XY: 0.388 AC XY: 28821AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at