10-71328021-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_018344.6(SLC29A3):​c.300+4967C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.397 in 151,960 control chromosomes in the GnomAD database, including 13,683 homozygotes. 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: 𝑓 0.40 ( 13683 hom., cov: 32)

Consequence

SLC29A3
NM_018344.6 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.433
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 Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.623 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SLC29A3NM_018344.6 linkc.300+4967C>T intron_variant Intron 2 of 5 ENST00000373189.6 NP_060814.4 Q9BZD2-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SLC29A3ENST00000373189.6 linkc.300+4967C>T intron_variant Intron 2 of 5 1 NM_018344.6 ENSP00000362285.5 Q9BZD2-1

Frequencies

GnomAD3 genomes
AF:
0.397
AC:
60295
AN:
151842
Hom.:
13667
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.629
Gnomad AMI
AF:
0.428
Gnomad AMR
AF:
0.250
Gnomad ASJ
AF:
0.276
Gnomad EAS
AF:
0.258
Gnomad SAS
AF:
0.285
Gnomad FIN
AF:
0.368
Gnomad MID
AF:
0.294
Gnomad NFE
AF:
0.320
Gnomad OTH
AF:
0.359
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.397
AC:
60345
AN:
151960
Hom.:
13683
Cov.:
32
AF XY:
0.393
AC XY:
29177
AN XY:
74266
show subpopulations
Gnomad4 AFR
AF:
0.629
Gnomad4 AMR
AF:
0.249
Gnomad4 ASJ
AF:
0.276
Gnomad4 EAS
AF:
0.258
Gnomad4 SAS
AF:
0.283
Gnomad4 FIN
AF:
0.368
Gnomad4 NFE
AF:
0.320
Gnomad4 OTH
AF:
0.357
Alfa
AF:
0.317
Hom.:
12699
Bravo
AF:
0.396
Asia WGS
AF:
0.296
AC:
1029
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.86
CADD
Benign
2.5
DANN
Benign
0.57

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: rs10999776; hg19: chr10-73087778; API