rs4667591
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_004525.3(LRP2):c.12628A>G(p.Ile4210Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. I4210L) has been classified as Benign.
Frequency
Consequence
NM_004525.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRP2 | NM_004525.3 | c.12628A>G | p.Ile4210Val | missense_variant | 69/79 | ENST00000649046.1 | |
LRP2 | XM_011511183.4 | c.12499A>G | p.Ile4167Val | missense_variant | 68/78 | ||
LRP2 | XM_047444340.1 | c.11704A>G | p.Ile3902Val | missense_variant | 69/79 | ||
LRP2 | XM_011511184.3 | c.10339A>G | p.Ile3447Val | missense_variant | 54/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP2 | ENST00000649046.1 | c.12628A>G | p.Ile4210Val | missense_variant | 69/79 | NM_004525.3 | P1 | ||
LRP2 | ENST00000649153.1 | c.3529A>G | p.Ile1177Val | missense_variant, NMD_transcript_variant | 21/30 | ||||
LRP2 | ENST00000650252.1 | c.*339A>G | 3_prime_UTR_variant, NMD_transcript_variant | 14/24 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at