rs13247141

Positions:

• chr7-151068385-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_003040.4(SLC4A2):​c.1147+331C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.215 in 151,920 control chromosomes in the GnomAD database, including 3,993 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 0.21 (3993 hom., cov: 32)
• Consequence: SLC4A2 NM_003040.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.66

Genes affected

SLC4A2 (HGNC:11028): (solute carrier family 4 member 2) This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.363 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC4A2	NM_003040.4	c.1147+331C>T		intron_variant		ENST00000413384.7	NP_003031.3
SLC4A2	NM_001199692.3	c.1147+331C>T		intron_variant			NP_001186621.1
SLC4A2	NM_001199693.1	c.1120+331C>T		intron_variant			NP_001186622.1
SLC4A2	NM_001199694.2	c.1105+331C>T		intron_variant			NP_001186623.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC4A2	ENST00000413384.7	c.1147+331C>T		intron_variant		1	NM_003040.4	ENSP00000405600	P1

Frequencies

GnomAD3 genomes AF: 0.215 AC: 32575 AN: 151802 Hom.: 3980 Cov.: 32

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.370

Gnomad ASJ AF: 0.261

Gnomad EAS AF: 0.314

Gnomad SAS AF: 0.242

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.201

Gnomad OTH AF: 0.219

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.215 AC: 32597 AN: 151920 Hom.: 3993 Cov.: 32 AF XY: 0.223 AC XY: 16581 AN XY: 74242

Gnomad4 AFR AF: 0.142

Gnomad4 AMR AF: 0.371

Gnomad4 ASJ AF: 0.261

Gnomad4 EAS AF: 0.313

Gnomad4 SAS AF: 0.241

Gnomad4 FIN AF: 0.265

Gnomad4 NFE AF: 0.201

Gnomad4 OTH AF: 0.219

Alfa AF: 0.210 Hom.: 717

Bravo AF: 0.225

Asia WGS AF: 0.294 AC: 1022 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.28
DANN	Benign	0.67

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

Other links and lift over

dbSNP: rs13247141; hg19: chr7-150765472;