rs2894181

Variant names:

• chr6-31206750-A-G
• rs2894181

Your query was ambiguous. Multiple possible variants found:

• chr6-31206750-A-G
• chr6-31206750-A-T

Variant summary

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

The variant allele was found at a frequency of 0.475 in 151,956 control chromosomes in the GnomAD database, including 17,286 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 0.47 (17286 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.518 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.475 AC: 72084 AN: 151838 Hom.: 17273 Cov.: 30

Gnomad AFR AF: 0.444

Gnomad AMI AF: 0.455

Gnomad AMR AF: 0.528

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.391

Gnomad SAS AF: 0.406

Gnomad FIN AF: 0.571

Gnomad MID AF: 0.503

Gnomad NFE AF: 0.475

Gnomad OTH AF: 0.499

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

GnomAD4 genome AF: 0.475 AC: 72125 AN: 151956 Hom.: 17286 Cov.: 30 AF XY: 0.478 AC XY: 35513 AN XY: 74258

Gnomad4 AFR AF: 0.444

Gnomad4 AMR AF: 0.527

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.392

Gnomad4 SAS AF: 0.406

Gnomad4 FIN AF: 0.571

Gnomad4 NFE AF: 0.475

Gnomad4 OTH AF: 0.500

Alfa AF: 0.469 Hom.: 12753

Bravo AF: 0.476

Asia WGS AF: 0.476 AC: 1655 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2894181; hg19: chr6-31174527;