chr1-171282129-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001282693.2(FMO1):c.979T>C(p.Phe327Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00125 in 1,614,036 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001282693.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMO1 | NM_001282693.2 | c.979T>C | p.Phe327Leu | missense_variant | 7/9 | ENST00000617670.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMO1 | ENST00000617670.6 | c.979T>C | p.Phe327Leu | missense_variant | 7/9 | 1 | NM_001282693.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00623 AC: 948AN: 152216Hom.: 13 Cov.: 32
GnomAD3 exomes AF: 0.00186 AC: 468AN: 251316Hom.: 5 AF XY: 0.00128 AC XY: 174AN XY: 135830
GnomAD4 exome AF: 0.000731 AC: 1069AN: 1461702Hom.: 14 Cov.: 31 AF XY: 0.000597 AC XY: 434AN XY: 727160
GnomAD4 genome ? AF: 0.00623 AC: 949AN: 152334Hom.: 13 Cov.: 32 AF XY: 0.00592 AC XY: 441AN XY: 74500
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at