chr3-184234343-C-G
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001390846.1(VWA5B2):āc.766C>Gā(p.Leu256Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000038 in 1,551,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Genomes: š 0.000046 ( 0 hom., cov: 33)
Exomes š: 0.000037 ( 0 hom. )
Consequence
VWA5B2
NM_001390846.1 missense
NM_001390846.1 missense
Scores
2
4
12
Clinical Significance
Conservation
PhyloP100: 1.13
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.19772708).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWA5B2 | NM_001390846.1 | c.766C>G | p.Leu256Val | missense_variant | 6/20 | ENST00000691901.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWA5B2 | ENST00000691901.1 | c.766C>G | p.Leu256Val | missense_variant | 6/20 | NM_001390846.1 | P1 | ||
VWA5B2 | ENST00000426955.6 | c.766C>G | p.Leu256Val | missense_variant | 5/19 | 1 | P1 | ||
VWA5B2 | ENST00000273794.5 | c.109C>G | p.Leu37Val | missense_variant | 3/17 | 2 | |||
VWA5B2 | ENST00000497229.1 | n.1212C>G | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152264Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000447 AC: 7AN: 156606Hom.: 0 AF XY: 0.0000241 AC XY: 2AN XY: 83012
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GnomAD4 exome AF: 0.0000372 AC: 52AN: 1399378Hom.: 0 Cov.: 32 AF XY: 0.0000362 AC XY: 25AN XY: 690206
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GnomAD4 genome AF: 0.0000460 AC: 7AN: 152264Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74394
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.766C>G (p.L256V) alteration is located in exon 5 (coding exon 5) of the VWA5B2 gene. This alteration results from a C to G substitution at nucleotide position 766, causing the leucine (L) at amino acid position 256 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
.;T
Eigen
Uncertain
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
D;T
M_CAP
Benign
D
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationTaster
Benign
D;D;D
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D;D
REVEL
Benign
Sift
Pathogenic
D;D
Sift4G
Pathogenic
D;D
Polyphen
1.0
.;D
Vest4
MutPred
0.34
.;Loss of disorder (P = 0.105);
MVP
MPC
ClinPred
D
GERP RS
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at