rs149046822
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004460.5(FAP):c.1832G>T(p.Gly611Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,444 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G611D) has been classified as Uncertain significance.
Frequency
Consequence
NM_004460.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAP | NM_004460.5 | c.1832G>T | p.Gly611Val | missense_variant | Exon 21 of 26 | ENST00000188790.9 | NP_004451.2 | |
FAP | NM_001291807.3 | c.1757G>T | p.Gly586Val | missense_variant | Exon 20 of 25 | NP_001278736.1 | ||
FAP | XM_011510796.4 | c.1802G>T | p.Gly601Val | missense_variant | Exon 20 of 25 | XP_011509098.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457444Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 725196
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at