rs2020870
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001460.5(FMO2):āc.107A>Gā(p.Asp36Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0745 in 1,613,426 control chromosomes in the GnomAD database, including 5,132 homozygotes. In-silico tool predicts 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_001460.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMO2 | NM_001460.5 | c.107A>G | p.Asp36Gly | missense_variant | 2/9 | ENST00000209929.10 | |
LOC105371611 | XR_922278.4 | n.515-17632T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMO2 | ENST00000209929.10 | c.107A>G | p.Asp36Gly | missense_variant | 2/9 | 1 | NM_001460.5 | P1 | |
ENST00000669750.1 | n.449-17632T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0726 AC: 11042AN: 152072Hom.: 452 Cov.: 32
GnomAD3 exomes AF: 0.0795 AC: 19983AN: 251384Hom.: 1012 AF XY: 0.0832 AC XY: 11298AN XY: 135868
GnomAD4 exome AF: 0.0747 AC: 109211AN: 1461236Hom.: 4680 Cov.: 31 AF XY: 0.0768 AC XY: 55794AN XY: 726922
GnomAD4 genome ? AF: 0.0726 AC: 11044AN: 152190Hom.: 452 Cov.: 32 AF XY: 0.0729 AC XY: 5423AN XY: 74402
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at