chr16-20319726-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001502.4(GP2):c.901G>T(p.Val301Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. V301I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001502.4 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 |
---|---|---|---|---|---|---|---|---|
GP2 | NM_001502.4 | c.901G>T | p.Val301Phe | missense_variant | Exon 6 of 11 | ENST00000302555.10 | NP_001493.2 | |
GP2 | NM_001007240.3 | c.910G>T | p.Val304Phe | missense_variant | Exon 7 of 12 | NP_001007241.2 | ||
GP2 | NM_001007241.3 | c.469G>T | p.Val157Phe | missense_variant | Exon 6 of 11 | NP_001007242.2 | ||
GP2 | NM_001007242.3 | c.460G>T | p.Val154Phe | missense_variant | Exon 5 of 10 | NP_001007243.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at