chr1-171282228-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001282693.2(FMO1):c.1078C>T(p.His360Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000276 in 1,614,014 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001282693.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMO1 | NM_001282693.2 | c.1078C>T | p.His360Tyr | missense_variant | 7/9 | ENST00000617670.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMO1 | ENST00000617670.6 | c.1078C>T | p.His360Tyr | missense_variant | 7/9 | 1 | NM_001282693.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00124 AC: 188AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000411 AC: 103AN: 250308Hom.: 0 AF XY: 0.000303 AC XY: 41AN XY: 135418
GnomAD4 exome AF: 0.000174 AC: 255AN: 1461694Hom.: 2 Cov.: 31 AF XY: 0.000155 AC XY: 113AN XY: 727146
GnomAD4 genome ? AF: 0.00125 AC: 190AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.00119 AC XY: 89AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 24, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at