rs221657
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001199563.2(BVES):c.*114G>C variant causes a 3 prime UTR 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)
Consequence
BVES
NM_001199563.2 3_prime_UTR
NM_001199563.2 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.134
Genes affected
BVES (HGNC:1152): (blood vessel epicardial substance) This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BVES | NM_001199563.2 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | ENST00000314641.10 | NP_001186492.1 | ||
BVES | NM_007073.4 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | NP_009004.2 | |||
BVES | NM_147147.4 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | NP_671488.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BVES | ENST00000314641 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | 1 | NM_001199563.2 | ENSP00000313172.5 | |||
BVES | ENST00000336775 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | 1 | ENSP00000337259.5 | ||||
BVES | ENST00000446408 | c.*114G>C | 3_prime_UTR_variant | Exon 8 of 8 | 1 | ENSP00000397310.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 genomes
Cov.:
31
GnomAD4 exome Cov.: 14
GnomAD4 exome
Cov.:
14
GnomAD4 genome Cov.: 31
GnomAD4 genome
Cov.:
31
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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