rs120074157
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_025074.7(FRAS1):c.9013C>G(p.Gln3005Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_025074.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FRAS1 | NM_025074.7 | c.9013C>G | p.Gln3005Glu | missense_variant | 60/74 | ENST00000512123.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRAS1 | ENST00000512123.4 | c.9013C>G | p.Gln3005Glu | missense_variant | 60/74 | 5 | NM_025074.7 | P1 | |
FRAS1 | ENST00000682513.1 | c.9013C>G | p.Gln3005Glu | missense_variant | 60/64 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248950Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135040
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461508Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727048
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at