2-21034831-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000384.3(APOB):c.889C>A(p.Arg297Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000188 in 1,592,828 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R297C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000384.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOB | NM_000384.3 | c.889C>A | p.Arg297Ser | missense_variant | 8/29 | ENST00000233242.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOB | ENST00000233242.5 | c.889C>A | p.Arg297Ser | missense_variant | 8/29 | 1 | NM_000384.3 | P1 | |
APOB | ENST00000399256.4 | c.889C>A | p.Arg297Ser | missense_variant | 8/17 | 1 | |||
APOB | ENST00000673739.2 | c.*195C>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/25 | |||||
APOB | ENST00000673882.2 | c.*195C>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/23 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1440658Hom.: 0 Cov.: 27 AF XY: 0.00000279 AC XY: 2AN XY: 718118
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at