chr2-162188338-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004460.5(FAP):c.1645G>A(p.Val549Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,962 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAP | NM_004460.5 | c.1645G>A | p.Val549Ile | missense_variant | Exon 20 of 26 | ENST00000188790.9 | NP_004451.2 | |
FAP | NM_001291807.3 | c.1570G>A | p.Val524Ile | missense_variant | Exon 19 of 25 | NP_001278736.1 | ||
FAP | XM_011510796.4 | c.1615G>A | p.Val539Ile | missense_variant | Exon 19 of 25 | XP_011509098.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460962Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726762
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1645G>A (p.V549I) alteration is located in exon 20 (coding exon 20) of the FAP gene. This alteration results from a G to A substitution at nucleotide position 1645, causing the valine (V) at amino acid position 549 to be replaced by an isoleucine (I). 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
Publications
No publications associated with this variant yet.