rs3756772
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000606080.2(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
ENST00000606080.2 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 | P1 | |
ENST00000692859.2 | n.222+96513G>A | intron_variant, non_coding_transcript_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