rs190037522
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_004525.3(LRP2):c.8132G>T(p.Arg2711Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R2711H) 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRP2 | NM_004525.3 | c.8132G>T | p.Arg2711Leu | missense_variant | 43/79 | ENST00000649046.1 | |
LRP2 | XM_011511183.4 | c.8132G>T | p.Arg2711Leu | missense_variant | 43/78 | ||
LRP2 | XM_047444340.1 | c.7208G>T | p.Arg2403Leu | missense_variant | 43/79 | ||
LRP2 | XM_011511184.3 | c.5843G>T | p.Arg1948Leu | missense_variant | 28/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP2 | ENST00000649046.1 | c.8132G>T | p.Arg2711Leu | missense_variant | 43/79 | NM_004525.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at