rs587780384
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_004525.3(LRP2):c.2738T>G(p.Met913Arg) variant causes a missense change involving the alteration of a conserved nucleotide. 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. M913T) has been classified as Uncertain significance.
Frequency
Consequence
NM_004525.3 missense
Scores
Clinical Significance
Conservation
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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.2738T>G | p.Met913Arg | missense_variant | 19/79 | ENST00000649046.1 | |
LRP2 | XM_011511183.4 | c.2738T>G | p.Met913Arg | missense_variant | 19/78 | ||
LRP2 | XM_047444340.1 | c.1814T>G | p.Met605Arg | missense_variant | 19/79 | ||
LRP2 | XM_011511184.3 | c.449T>G | p.Met150Arg | missense_variant | 4/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP2 | ENST00000649046.1 | c.2738T>G | p.Met913Arg | missense_variant | 19/79 | NM_004525.3 | P1 | ||
LRP2 | ENST00000443831.1 | c.2327T>G | p.Met776Arg | missense_variant | 17/23 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at