rs677688
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018439.4(IMPACT):āc.451C>Gā(p.Leu151Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.914 in 1,612,828 control chromosomes in the GnomAD database, including 675,851 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
NM_018439.4 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 | UniProt |
---|---|---|---|---|---|---|---|
IMPACT | NM_018439.4 | c.451C>G | p.Leu151Val | missense_variant | 6/11 | ENST00000284202.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IMPACT | ENST00000284202.9 | c.451C>G | p.Leu151Val | missense_variant | 6/11 | 1 | NM_018439.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.920 AC: 139934AN: 152164Hom.: 64539 Cov.: 33
GnomAD3 exomes AF: 0.906 AC: 226974AN: 250564Hom.: 103618 AF XY: 0.903 AC XY: 122301AN XY: 135442
GnomAD4 exome AF: 0.914 AC: 1334535AN: 1460546Hom.: 611254 Cov.: 40 AF XY: 0.913 AC XY: 663143AN XY: 726622
GnomAD4 genome ? AF: 0.920 AC: 140053AN: 152282Hom.: 64597 Cov.: 33 AF XY: 0.918 AC XY: 68374AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at