rs2229267
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_004525.3(LRP2):c.4875T>G(p.Cys1625Trp) variant causes a missense change involving the alteration of a non-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. Synonymous variant affecting the same amino acid position (i.e. C1625C) 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 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRP2 | NM_004525.3 | c.4875T>G | p.Cys1625Trp | missense_variant | 29/79 | ENST00000649046.1 | |
LRP2 | XM_011511183.4 | c.4875T>G | p.Cys1625Trp | missense_variant | 29/78 | ||
LRP2 | XM_047444340.1 | c.3951T>G | p.Cys1317Trp | missense_variant | 29/79 | ||
LRP2 | XM_011511184.3 | c.2586T>G | p.Cys862Trp | missense_variant | 14/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP2 | ENST00000649046.1 | c.4875T>G | p.Cys1625Trp | missense_variant | 29/79 | NM_004525.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 36
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at