chr9-136677531-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006412.4(AGPAT2):āc.208T>Cā(p.Phe70Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,538 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. F70V) has been classified as Uncertain significance.
Frequency
Consequence
NM_006412.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AGPAT2 | NM_006412.4 | c.208T>C | p.Phe70Leu | missense_variant | 2/6 | ENST00000371696.7 | |
AGPAT2 | NM_001012727.2 | c.208T>C | p.Phe70Leu | missense_variant | 2/5 | ||
AGPAT2 | XM_047422636.1 | c.-102T>C | 5_prime_UTR_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AGPAT2 | ENST00000371696.7 | c.208T>C | p.Phe70Leu | missense_variant | 2/6 | 1 | NM_006412.4 | P1 | |
AGPAT2 | ENST00000371694.7 | c.208T>C | p.Phe70Leu | missense_variant | 2/5 | 1 | |||
AGPAT2 | ENST00000470861.1 | n.216T>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248162Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135044
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460538Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726590
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at