1-100737839-A-C
Variant names:
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001078.4(VCAM1):c.2060-284A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
VCAM1
NM_001078.4 intron
NM_001078.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.09
Genes affected
VCAM1 (HGNC:12663): (vascular cell adhesion molecule 1) This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
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ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VCAM1 | NM_001078.4 | c.2060-284A>C | intron_variant | Intron 8 of 8 | ENST00000294728.7 | NP_001069.1 | ||
VCAM1 | NM_001199834.2 | c.1874-284A>C | intron_variant | Intron 8 of 8 | NP_001186763.1 | |||
VCAM1 | NM_080682.3 | c.1784-284A>C | intron_variant | Intron 7 of 7 | NP_542413.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 genomes
Cov.:
31
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 64074Hom.: 0 Cov.: 3 AF XY: 0.00 AC XY: 0AN XY: 33022
GnomAD4 exome
Data not reliable, filtered out with message: AC0;AS_VQSR
AF:
AC:
0
AN:
64074
Hom.:
Cov.:
3
AF XY:
AC XY:
0
AN XY:
33022
African (AFR)
AF:
AC:
0
AN:
2038
American (AMR)
AF:
AC:
0
AN:
2498
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
2278
East Asian (EAS)
AF:
AC:
0
AN:
4332
South Asian (SAS)
AF:
AC:
0
AN:
4640
European-Finnish (FIN)
AF:
AC:
0
AN:
3076
Middle Eastern (MID)
AF:
AC:
0
AN:
322
European-Non Finnish (NFE)
AF:
AC:
0
AN:
41020
Other (OTH)
AF:
AC:
0
AN:
3870
GnomAD4 genome Cov.: 31
GnomAD4 genome
Cov.:
31
Alfa
AF:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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