rs1251704664

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate

The NM_014256.4(B3GNT3):​c.295C>G​(p.Pro99Ala) variant causes a missense 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. 15/21 in silico tools predict 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

B3GNT3
NM_014256.4 missense

Scores

2
17

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.292
Variant links:
Genes affected
B3GNT3 (HGNC:13528): (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3) This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

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=0.1624974).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
B3GNT3NM_014256.4 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 ENST00000318683.7 NP_055071.2 Q9Y2A9
B3GNT3XM_011527626.3 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 XP_011525928.1 Q9Y2A9
B3GNT3XM_047438042.1 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 XP_047293998.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
B3GNT3ENST00000318683.7 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 1 NM_014256.4 ENSP00000321874.5 Q9Y2A9
B3GNT3ENST00000595387.1 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 1 ENSP00000472638.1 Q9Y2A9
B3GNT3ENST00000599265.5 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 3 3 ENSP00000471733.1 M0R199
B3GNT3ENST00000600777.1 linkc.295C>G p.Pro99Ala missense_variant Exon 2 of 2 3 ENSP00000468914.1 M0QX58

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Cov.:
37
GnomAD4 genome
Cov.:
31
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.069
BayesDel_addAF
Benign
-0.26
T
BayesDel_noAF
Benign
-0.61
CADD
Benign
6.6
DANN
Benign
0.87
DEOGEN2
Benign
0.019
T;T;T;T
Eigen
Benign
-0.73
Eigen_PC
Benign
-0.91
FATHMM_MKL
Benign
0.13
N
LIST_S2
Benign
0.54
T;.;T;T
M_CAP
Benign
0.026
D
MetaRNN
Benign
0.16
T;T;T;T
MetaSVM
Benign
-1.0
T
MutationAssessor
Benign
1.9
.;L;.;L
PrimateAI
Benign
0.42
T
PROVEAN
Benign
-0.89
.;N;.;.
REVEL
Benign
0.069
Sift
Uncertain
0.0080
.;D;.;.
Sift4G
Uncertain
0.039
D;T;D;T
Polyphen
0.82
.;P;.;P
Vest4
0.11, 0.11
MutPred
0.52
Loss of ubiquitination at K102 (P = 0.0962);Loss of ubiquitination at K102 (P = 0.0962);Loss of ubiquitination at K102 (P = 0.0962);Loss of ubiquitination at K102 (P = 0.0962);
MVP
0.31
MPC
0.68
ClinPred
0.32
T
GERP RS
0.95
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Varity_R
0.059
gMVP
0.74

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1251704664; hg19: chr19-17918911; API