rs3213869
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001137550.2(LRRFIP1):āc.1394A>Gā(p.Gln465Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0426 in 1,613,590 control chromosomes in the GnomAD database, including 1,617 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_001137550.2 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 | UniProt |
---|---|---|---|---|---|---|---|
LRRFIP1 | NM_001137550.2 | c.1394A>G | p.Gln465Arg | missense_variant | 19/24 | ENST00000308482.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRFIP1 | ENST00000308482.14 | c.1394A>G | p.Gln465Arg | missense_variant | 19/24 | 1 | NM_001137550.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0333 AC: 5062AN: 152194Hom.: 104 Cov.: 32
GnomAD3 exomes AF: 0.0389 AC: 9768AN: 251368Hom.: 240 AF XY: 0.0402 AC XY: 5460AN XY: 135866
GnomAD4 exome AF: 0.0436 AC: 63651AN: 1461278Hom.: 1513 Cov.: 31 AF XY: 0.0436 AC XY: 31732AN XY: 726972
GnomAD4 genome ? AF: 0.0332 AC: 5059AN: 152312Hom.: 104 Cov.: 32 AF XY: 0.0328 AC XY: 2445AN XY: 74484
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at