rs193920865
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PP2PP3_Strong
The NM_018557.3(LRP1B):c.10187G>T(p.Cys3396Phe) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. 12/20 in silico tools predict a damaging 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. C3396S) has been classified as Uncertain significance.
Frequency
Consequence
NM_018557.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRP1B | NM_018557.3 | c.10187G>T | p.Cys3396Phe | missense_variant | 65/91 | ENST00000389484.8 | |
LRP1B | XM_017004341.2 | c.9797G>T | p.Cys3266Phe | missense_variant | 65/91 | ||
LRP1B | XM_047444771.1 | c.10298G>T | p.Cys3433Phe | missense_variant | 65/77 | ||
LRP1B | XM_017004342.1 | c.5039G>T | p.Cys1680Phe | missense_variant | 36/62 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRP1B | ENST00000389484.8 | c.10187G>T | p.Cys3396Phe | missense_variant | 65/91 | 1 | NM_018557.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461684Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727138
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at