Variant rs8187758 details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1

The NM_004213.5(SLC28A1):c.709C>A(p.Gln237Lys) variant causes a missense change. The variant allele was found at a frequency of 0.25 in 1,608,760 control chromosomes in the GnomAD database, including 53,745 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.

Frequency

Genomes: 𝑓 0.23 ( 4358 hom., cov: 33)

Exomes 𝑓: 0.25 ( 49387 hom. )

Consequence

SLC28A1
NM_004213.5 missense

Scores

Clinical Significance

Benign no assertion criteria provided B:1

Conservation

PhyloP100: 5.80

Variant links:

Genes affected

SLC28A1 (HGNC:11001): (solute carrier family 28 member 1) Enables azole transmembrane transporter activity; cytidine transmembrane transporter activity; and uridine transmembrane transporter activity. Involved in azole transmembrane transport; nucleoside transport; and pyrimidine-containing compound transmembrane transport. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC28A1 links:

SLC28A1 (HGNC:):

SLC28A1 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -13 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=0.005893916).

BP6

Variant 15-84905644-C-A is Benign according to our data. Variant chr15-84905644-C-A is described in ClinVar as [Benign]. Clinvar id is 3059004.Status of the report is no_assertion_criteria_provided, 0 stars.

BA1

GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.441 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC28A1	NM_004213.5 linkuse as main transcript	c.709C>A	p.Gln237Lys	missense_variant	8/19	ENST00000394573.6	NP_004204.3	O00337-1B7Z3L5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	UniProt
SLC28A1	ENST00000394573.6 linkuse as main transcript	c.709C>A	p.Gln237Lys	missense_variant	8/19	1	NM_004213.5	ENSP00000378074.1	O00337-1
SLC28A1	ENST00000286749.3 linkuse as main transcript	c.709C>A	p.Gln237Lys	missense_variant	7/18	1		ENSP00000286749.3	O00337-1
SLC28A1	ENST00000538177.5 linkuse as main transcript	c.709C>A	p.Gln237Lys	missense_variant	7/15	2		ENSP00000443752.1	B7Z3L6

Frequencies

GnomAD3 genomes

AF:

0.230

AC:

34972

AN:

151980

Hom.:

4345

Cov.:

show subpopulations

Gnomad AFR

AF:

0.170

Gnomad AMI

AF:

0.187

Gnomad AMR

AF:

0.327

Gnomad ASJ

AF:

0.213

Gnomad EAS

AF:

0.316

Gnomad SAS

AF:

0.455

Gnomad FIN

AF:

0.214

Gnomad MID

AF:

0.190

Gnomad NFE

AF:

0.227

Gnomad OTH

AF:

0.211

GnomAD3 exomes

AF:

0.281

AC:

70544

AN:

251152

Hom.:

11327

AF XY:

0.281

AC XY:

38166

AN XY:

135738

show subpopulations

Gnomad AFR exome

AF:

0.166

Gnomad AMR exome

AF:

0.432

Gnomad ASJ exome

AF:

0.215

Gnomad EAS exome

AF:

0.322

Gnomad SAS exome

AF:

0.429

Gnomad FIN exome

AF:

0.215

Gnomad NFE exome

AF:

0.224

Gnomad OTH exome

AF:

0.260

GnomAD4 exome

AF:

0.252

AC:

366592

AN:

1456662

Hom.:

49387

Cov.:

AF XY:

0.256

AC XY:

185300

AN XY:

724882

show subpopulations

Gnomad4 AFR exome

AF:

0.161

Gnomad4 AMR exome

AF:

0.421

Gnomad4 ASJ exome

AF:

0.212

Gnomad4 EAS exome

AF:

0.322

Gnomad4 SAS exome

AF:

0.422

Gnomad4 FIN exome

AF:

0.221

Gnomad4 NFE exome

AF:

0.235

Gnomad4 OTH exome

AF:

0.248

GnomAD4 genome

AF:

0.230

AC:

35018

AN:

152098

Hom.:

4358

Cov.:

AF XY:

0.235

AC XY:

17455

AN XY:

74354

show subpopulations

Gnomad4 AFR

AF:

0.170

Gnomad4 AMR

AF:

0.328

Gnomad4 ASJ

AF:

0.213

Gnomad4 EAS

AF:

0.316

Gnomad4 SAS

AF:

0.457

Gnomad4 FIN

AF:

0.214

Gnomad4 NFE

AF:

0.227

Gnomad4 OTH

AF:

0.214

Alfa

AF:

0.228

Hom.:

8209

Bravo

AF:

0.232

TwinsUK

AF:

0.238

AC:

881

ALSPAC

AF:

0.249

AC:

960

ESP6500AA

AF:

0.171

AC:

752

ESP6500EA

AF:

0.224

AC:

1926

ExAC

AF:

0.273

AC:

33199

Asia WGS

AF:

0.362

AC:

1259

AN:

3478

EpiCase

AF:

0.222

EpiControl

AF:

0.225

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: no assertion criteria provided

LINK: link

Submissions by phenotype

SLC28A1-related disorder

Benign:1

Benign, no assertion criteria provided

clinical testing

PreventionGenetics, part of Exact Sciences

Nov 01, 2019

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Benign

0.14

BayesDel_addAF

Benign

-0.56

BayesDel_noAF

Benign

-0.43

CADD

Uncertain

DANN

Benign

0.96

DEOGEN2

Benign

0.021

T;T;T

Eigen

Uncertain

0.20

Eigen_PC

Benign

0.22

FATHMM_MKL

Uncertain

0.85

LIST_S2

Uncertain

0.94

D;D;.

MetaRNN

Benign

0.0059

T;T;T

MetaSVM

Benign

-0.89

MutationAssessor

Benign

1.9

.;L;L

PrimateAI

Benign

0.41

PROVEAN

Uncertain

-3.7

D;D;D

REVEL

Benign

0.14

Sift

Benign

0.32

T;T;T

Sift4G

Benign

0.27

T;T;T

Polyphen

1.0

D;P;P

Vest4

0.40

MPC

0.49

ClinPred

0.035

GERP RS

4.0

Varity_R

0.73

gMVP

0.78

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.040

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over