2-140239515-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018557.3(LRP1B):c.13342G>T(p.Val4448Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,450,906 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRP1B | NM_018557.3 | c.13342G>T | p.Val4448Leu | missense_variant | Exon 88 of 91 | ENST00000389484.8 | NP_061027.2 | |
LRP1B | XM_017004341.2 | c.12952G>T | p.Val4318Leu | missense_variant | Exon 88 of 91 | XP_016859830.1 | ||
LRP1B | XM_017004342.1 | c.8194G>T | p.Val2732Leu | missense_variant | Exon 59 of 62 | XP_016859831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LRP1B | ENST00000389484.8 | c.13342G>T | p.Val4448Leu | missense_variant | Exon 88 of 91 | 1 | NM_018557.3 | ENSP00000374135.3 | ||
LRP1B | ENST00000437977.5 | c.2035G>T | p.Val679Leu | missense_variant | Exon 15 of 17 | 5 | ENSP00000415052.1 | |||
LRP1B | ENST00000442974.1 | c.649G>T | p.Val217Leu | missense_variant | Exon 6 of 7 | 5 | ENSP00000393859.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450906Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 721992
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.13342G>T (p.V4448L) alteration is located in exon 88 (coding exon 88) of the LRP1B gene. This alteration results from a G to T substitution at nucleotide position 13342, causing the valine (V) at amino acid position 4448 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at