rs4715571

Variant names:

• chr6-55944249-T-A
• rs4715571

Your query was ambiguous. Multiple possible variants found:

• chr6-55944249-T-A
• chr6-55944249-T-G

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 0.526 in 151,676 control chromosomes in the GnomAD database, including 21,744 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 0.53 (21744 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.308

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.624 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: 0.526 AC: 79655 AN: 151558 Hom.: 21707 Cov.: 31

Gnomad AFR AF: 0.630

Gnomad AMI AF: 0.643

Gnomad AMR AF: 0.578

Gnomad ASJ AF: 0.528

Gnomad EAS AF: 0.168

Gnomad SAS AF: 0.371

Gnomad FIN AF: 0.524

Gnomad MID AF: 0.560

Gnomad NFE AF: 0.487

Gnomad OTH AF: 0.527

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

GnomAD4 genome AF: 0.526 AC: 79753 AN: 151676 Hom.: 21744 Cov.: 31 AF XY: 0.525 AC XY: 38935 AN XY: 74134

Gnomad4 AFR AF: 0.631

Gnomad4 AMR AF: 0.577

Gnomad4 ASJ AF: 0.528

Gnomad4 EAS AF: 0.167

Gnomad4 SAS AF: 0.371

Gnomad4 FIN AF: 0.524

Gnomad4 NFE AF: 0.487

Gnomad4 OTH AF: 0.531

Alfa AF: 0.334 Hom.: 783

Bravo AF: 0.534

Asia WGS AF: 0.326 AC: 1134 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.1
DANN	Benign	0.35

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4715571; hg19: chr6-55809047;