rs3783615
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001078.4(VCAM1):c.2146A>T(p.Ile716Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00306 in 1,613,854 control chromosomes in the GnomAD database, including 146 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001078.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VCAM1 | NM_001078.4 | c.2146A>T | p.Ile716Leu | missense_variant | 9/9 | ENST00000294728.7 | NP_001069.1 | |
VCAM1 | NM_001199834.2 | c.1960A>T | p.Ile654Leu | missense_variant | 9/9 | NP_001186763.1 | ||
VCAM1 | NM_080682.3 | c.1870A>T | p.Ile624Leu | missense_variant | 8/8 | NP_542413.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0162 AC: 2471AN: 152172Hom.: 80 Cov.: 33
GnomAD3 exomes AF: 0.00450 AC: 1130AN: 251280Hom.: 28 AF XY: 0.00327 AC XY: 444AN XY: 135796
GnomAD4 exome AF: 0.00168 AC: 2462AN: 1461564Hom.: 66 Cov.: 31 AF XY: 0.00143 AC XY: 1040AN XY: 727094
GnomAD4 genome AF: 0.0162 AC: 2474AN: 152290Hom.: 80 Cov.: 33 AF XY: 0.0162 AC XY: 1205AN XY: 74478
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at