rs6842571

Variant names:

• chr4-80151510-G-A
• rs6842571

Your query was ambiguous. Multiple possible variants found:

• chr4-80151510-G-A
• chr4-80151510-G-C
• chr4-80151510-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0823 in 152,088 control chromosomes in the GnomAD database, including 831 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 0.082 (831 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0830
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.183 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0823 AC: 12501 AN: 151970 Hom.: 829 Cov.: 32

Gnomad AFR AF: 0.187

Gnomad AMI AF: 0.0471

Gnomad AMR AF: 0.0476

Gnomad ASJ AF: 0.0260

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.0112

Gnomad FIN AF: 0.0679

Gnomad MID AF: 0.0696

Gnomad NFE AF: 0.0440

Gnomad OTH AF: 0.0629

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

GnomAD4 genome AF: 0.0823 AC: 12513 AN: 152088 Hom.: 831 Cov.: 32 AF XY: 0.0809 AC XY: 6012 AN XY: 74356

African (AFR) AF: 0.187 AC: 7739 AN: 41482

American (AMR) AF: 0.0476 AC: 727 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0260 AC: 90 AN: 3468

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5172

South Asian (SAS) AF: 0.0110 AC: 53 AN: 4818

European-Finnish (FIN) AF: 0.0679 AC: 718 AN: 10578

Middle Eastern (MID) AF: 0.0748 AC: 22 AN: 294

European-Non Finnish (NFE) AF: 0.0440 AC: 2989 AN: 67976

Other (OTH) AF: 0.0623 AC: 131 AN: 2104

Alfa AF: 0.0479 Hom.: 489

Bravo AF: 0.0852

Asia WGS AF: 0.0130 AC: 45 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.7
DANN	Benign	0.68
PhyloP100		0.083

Splicing

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

Other links and lift over

dbSNP: rs6842571; hg19: chr4-81072664;