chr2-140510004-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_018557.3(LRP1B):c.8322C>G(p.Cys2774Trp) 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. C2774C) has been classified as Benign.
Frequency
Consequence
NM_018557.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRP1B | NM_018557.3 | c.8322C>G | p.Cys2774Trp | missense_variant | 52/91 | ENST00000389484.8 | |
LRP1B | XM_017004341.2 | c.7932C>G | p.Cys2644Trp | missense_variant | 52/91 | ||
LRP1B | XM_047444771.1 | c.8433C>G | p.Cys2811Trp | missense_variant | 52/77 | ||
LRP1B | XM_017004342.1 | c.3174C>G | p.Cys1058Trp | missense_variant | 23/62 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP1B | ENST00000389484.8 | c.8322C>G | p.Cys2774Trp | missense_variant | 52/91 | 1 | NM_018557.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.