rs2596571

Positions:

• chr6-31380245-G-C
• chr6-31380245-G-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 0.749 in 151,768 control chromosomes in the GnomAD database, including 43,050 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 0.75 (43050 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.95

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.902 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.749 AC: 113651 AN: 151650 Hom.: 43007 Cov.: 31

Gnomad AFR AF: 0.677

Gnomad AMI AF: 0.896

Gnomad AMR AF: 0.768

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.924

Gnomad SAS AF: 0.839

Gnomad FIN AF: 0.831

Gnomad MID AF: 0.794

Gnomad NFE AF: 0.749

Gnomad OTH AF: 0.736

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

GnomAD4 genome AF: 0.749 AC: 113744 AN: 151768 Hom.: 43050 Cov.: 31 AF XY: 0.757 AC XY: 56139 AN XY: 74188

Gnomad4 AFR AF: 0.677

Gnomad4 AMR AF: 0.769

Gnomad4 ASJ AF: 0.859

Gnomad4 EAS AF: 0.924

Gnomad4 SAS AF: 0.839

Gnomad4 FIN AF: 0.831

Gnomad4 NFE AF: 0.749

Gnomad4 OTH AF: 0.740

Alfa AF: 0.686 Hom.: 2308

Bravo AF: 0.736

Asia WGS AF: 0.866 AC: 3013 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.1
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2596571; hg19: chr6-31348022;