rs777707816
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_024006.6(VKORC1):c.379G>T(p.Val127Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,868 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. V127M) has been classified as Uncertain significance.
Frequency
Consequence
NM_024006.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VKORC1 | NM_024006.6 | c.379G>T | p.Val127Leu | missense_variant | Exon 3 of 3 | ENST00000394975.3 | NP_076869.1 | |
VKORC1 | NM_001311311.2 | c.463G>T | p.Val155Leu | missense_variant | Exon 4 of 4 | NP_001298240.1 | ||
VKORC1 | NM_206824.3 | c.269G>T | p.Arg90Leu | missense_variant | Exon 2 of 2 | NP_996560.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VKORC1 | ENST00000394975.3 | c.379G>T | p.Val127Leu | missense_variant | Exon 3 of 3 | 1 | NM_024006.6 | ENSP00000378426.2 | ||
ENSG00000255439 | ENST00000529564.1 | c.283+2065G>T | intron_variant | Intron 2 of 4 | 4 | ENSP00000431371.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727230
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.