chr20-38373117-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000217407.3(LBP):āc.1306T>Cā(p.Phe436Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0937 in 1,612,544 control chromosomes in the GnomAD database, including 8,096 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000217407.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LBP | NM_004139.5 | c.1306T>C | p.Phe436Leu | missense_variant | 13/15 | ENST00000217407.3 | NP_004130.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LBP | ENST00000217407.3 | c.1306T>C | p.Phe436Leu | missense_variant | 13/15 | 1 | NM_004139.5 | ENSP00000217407 | P1 |
Frequencies
GnomAD3 genomes AF: 0.116 AC: 17709AN: 152058Hom.: 1259 Cov.: 32
GnomAD3 exomes AF: 0.0923 AC: 23217AN: 251434Hom.: 1343 AF XY: 0.0961 AC XY: 13057AN XY: 135892
GnomAD4 exome AF: 0.0914 AC: 133405AN: 1460366Hom.: 6830 Cov.: 30 AF XY: 0.0932 AC XY: 67713AN XY: 726556
GnomAD4 genome AF: 0.117 AC: 17745AN: 152178Hom.: 1266 Cov.: 32 AF XY: 0.116 AC XY: 8626AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at