rs8190478

Variant summary

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

The NR_182427.1(SLC35D2-HSD17B3):​n.2561-290C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.265 in 152,044 control chromosomes in the GnomAD database, including 6,285 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 0.26 ( 6285 hom., cov: 32)

Consequence

SLC35D2-HSD17B3
NR_182427.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0460
Variant links:
Genes affected

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=-0.92).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.364 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
SLC35D2-HSD17B3NR_182427.1 linkuse as main transcriptn.2561-290C>T intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ENST00000464104.6 linkuse as main transcriptn.264-290C>T intron_variant, non_coding_transcript_variant 5

Frequencies

GnomAD3 genomes
AF:
0.265
AC:
40222
AN:
151924
Hom.:
6289
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.104
Gnomad AMI
AF:
0.484
Gnomad AMR
AF:
0.234
Gnomad ASJ
AF:
0.208
Gnomad EAS
AF:
0.259
Gnomad SAS
AF:
0.162
Gnomad FIN
AF:
0.327
Gnomad MID
AF:
0.177
Gnomad NFE
AF:
0.368
Gnomad OTH
AF:
0.272
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.265
AC:
40226
AN:
152044
Hom.:
6285
Cov.:
32
AF XY:
0.257
AC XY:
19137
AN XY:
74344
show subpopulations
Gnomad4 AFR
AF:
0.104
Gnomad4 AMR
AF:
0.233
Gnomad4 ASJ
AF:
0.208
Gnomad4 EAS
AF:
0.259
Gnomad4 SAS
AF:
0.162
Gnomad4 FIN
AF:
0.327
Gnomad4 NFE
AF:
0.368
Gnomad4 OTH
AF:
0.272
Alfa
AF:
0.314
Hom.:
2898
Bravo
AF:
0.253
Asia WGS
AF:
0.221
AC:
766
AN:
3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.99
DANN
Benign
0.24

Splicing

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: rs8190478; hg19: chr9-99064883; API