10-71356185-G-T

Variant summary

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

The NM_018344.6(SLC29A3):​c.715G>T​(p.Val239Phe) 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. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V239I) has been classified as Benign.

Frequency

Genomes: not found (cov: 32)

Consequence

SLC29A3
NM_018344.6 missense

Scores

5
13

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.160
Variant links:
Genes affected
SLC29A3 (HGNC:23096): (solute carrier family 29 member 3) This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

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=0.21321344).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SLC29A3NM_018344.6 linkc.715G>T p.Val239Phe missense_variant Exon 5 of 6 ENST00000373189.6 NP_060814.4 Q9BZD2-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SLC29A3ENST00000373189.6 linkc.715G>T p.Val239Phe missense_variant Exon 5 of 6 1 NM_018344.6 ENSP00000362285.5 Q9BZD2-1

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
64
GnomAD4 genome
Cov.:
32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.10
BayesDel_addAF
Benign
-0.014
T
BayesDel_noAF
Benign
-0.26
CADD
Benign
0.12
DANN
Uncertain
0.99
DEOGEN2
Benign
0.13
T;T;.
Eigen
Benign
-1.3
Eigen_PC
Benign
-1.5
FATHMM_MKL
Benign
0.15
N
LIST_S2
Benign
0.64
.;T;T
M_CAP
Benign
0.074
D
MetaRNN
Benign
0.21
T;T;T
MetaSVM
Benign
-0.62
T
MutationAssessor
Uncertain
2.5
M;M;.
PrimateAI
Benign
0.27
T
PROVEAN
Uncertain
-3.2
.;D;.
REVEL
Uncertain
0.35
Sift
Uncertain
0.0070
.;D;.
Polyphen
0.14
B;B;.
Vest4
0.55
MutPred
0.53
Loss of stability (P = 0.1467);Loss of stability (P = 0.1467);.;
MVP
0.35
MPC
0.27
ClinPred
0.58
D
GERP RS
-2.2
Varity_R
0.11
gMVP
0.63

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.020
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: rs2252996; hg19: chr10-73115942; API