chr2-162183451-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004460.5(FAP):c.1832G>A(p.Gly611Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000783 in 1,609,500 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAP | NM_004460.5 | c.1832G>A | p.Gly611Asp | missense_variant | Exon 21 of 26 | ENST00000188790.9 | NP_004451.2 | |
FAP | NM_001291807.3 | c.1757G>A | p.Gly586Asp | missense_variant | Exon 20 of 25 | NP_001278736.1 | ||
FAP | XM_011510796.4 | c.1802G>A | p.Gly601Asp | missense_variant | Exon 20 of 25 | XP_011509098.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 249478Hom.: 1 AF XY: 0.000163 AC XY: 22AN XY: 134882
GnomAD4 exome AF: 0.0000837 AC: 122AN: 1457442Hom.: 1 Cov.: 28 AF XY: 0.000105 AC XY: 76AN XY: 725194
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1832G>A (p.G611D) alteration is located in exon 21 (coding exon 21) of the FAP gene. This alteration results from a G to A substitution at nucleotide position 1832, causing the glycine (G) at amino acid position 611 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at