Genetic Variant XR_001744437.2:n.2082C>A (chr6-160277707-C-A) – ACMG Classification: Benign (-12 pts)

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The XR_001744437.2(LOC105378088):n.2082C>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0432 in 152,192 control chromosomes in the GnomAD database, including 265 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 0.043 ( 265 hom., cov: 32)

Exomes 𝑓: 0.063 ( 0 hom. )

Consequence

LOC105378088
XR_001744437.2 non_coding_transcript_exon

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.961

Publications

6 publications found

Variant links:

Genes affected

LOC105378088 (HGNC:):

LOC105378088 links:

SLC22A2 (HGNC:10966): (solute carrier family 22 member 2) Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]

SLC22A2 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.87).

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.173 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105378088	XR_001744437.2 link	n.2082C>A		non_coding_transcript_exon_variant	Exon 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC22A2	ENST00000366952.1 link	c.-1551G>T		upstream_gene_variant		5		ENSP00000355919.1		Q5T7Q5

Frequencies

GnomAD3 genomes

AF:

0.0433

AC:

6576

AN:

152042

Hom.:

265

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0123

Gnomad AMI

AF:

0.0164

Gnomad AMR

AF:

0.0204

Gnomad ASJ

AF:

0.0352

Gnomad EAS

AF:

0.182

Gnomad SAS

AF:

0.160

Gnomad FIN

AF:

0.0772

Gnomad MID

AF:

0.00949

Gnomad NFE

AF:

0.0441

Gnomad OTH

AF:

0.0445

GnomAD4 exome

AF:

0.0625

AC:

AN:

Hom.:

AF XY:

0.0769

AC XY:

AN XY:

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

American (AMR)

AC:

AN:

Ashkenazi Jewish (ASJ)

AC:

AN:

East Asian (EAS)

AC:

AN:

South Asian (SAS)

AC:

AN:

European-Finnish (FIN)

AF:

0.00

AC:

AN:

Middle Eastern (MID)

AC:

AN:

European-Non Finnish (NFE)

AF:

0.0769

AC:

AN:

Other (OTH)

AC:

AN:

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.600

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

AF:

0.0432

AC:

6574

AN:

152160

Hom.:

265

Cov.:

AF XY:

0.0477

AC XY:

3547

AN XY:

74368

show subpopulations

African (AFR)

AF:

0.0123

AC:

512

AN:

41550

American (AMR)

AF:

0.0204

AC:

312

AN:

15294

Ashkenazi Jewish (ASJ)

AF:

0.0352

AC:

122

AN:

3468

East Asian (EAS)

AF:

0.183

AC:

938

AN:

5138

South Asian (SAS)

AF:

0.159

AC:

764

AN:

4802

European-Finnish (FIN)

AF:

0.0772

AC:

817

AN:

10588

Middle Eastern (MID)

AF:

0.00680

AC:

AN:

294

European-Non Finnish (NFE)

AF:

0.0441

AC:

2999

AN:

68000

Other (OTH)

AF:

0.0440

AC:

AN:

2114

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.496

Heterozygous variant carriers

297

595

892

1190

1487

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

168

252

336

420

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.0436

Hom.:

Bravo

AF:

0.0355

Asia WGS

AF:

0.188

AC:

652

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.87

CADD

Benign

0.094

(source)

DANN

Benign

0.79

PhyloP100

-0.96

PromoterAI

-0.044

Neutral

(source)

Splicing

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

Publications

You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over