rs6597818

Variant names:

• chr10-126844585-G-A
• rs6597818

Your query was ambiguous. Multiple possible variants found:

• chr10-126844585-G-A
• chr10-126844585-G-C
• chr10-126844585-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 0.634 in 151,864 control chromosomes in the GnomAD database, including 30,964 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 0.63 (30964 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.73 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: 0.634 AC: 96215 AN: 151746 Hom.: 30931 Cov.: 31

Gnomad AFR AF: 0.521

Gnomad AMI AF: 0.625

Gnomad AMR AF: 0.684

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.750

Gnomad SAS AF: 0.618

Gnomad FIN AF: 0.705

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.674

Gnomad OTH AF: 0.644

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

GnomAD4 genome AF: 0.634 AC: 96299 AN: 151864 Hom.: 30964 Cov.: 31 AF XY: 0.640 AC XY: 47488 AN XY: 74226

African (AFR) AF: 0.521 AC: 21550 AN: 41396

American (AMR) AF: 0.685 AC: 10456 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.615 AC: 2135 AN: 3472

East Asian (EAS) AF: 0.750 AC: 3850 AN: 5134

South Asian (SAS) AF: 0.620 AC: 2977 AN: 4800

European-Finnish (FIN) AF: 0.705 AC: 7434 AN: 10550

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.674 AC: 45781 AN: 67938

Other (OTH) AF: 0.644 AC: 1354 AN: 2102

Alfa AF: 0.651 Hom.: 5103

Bravo AF: 0.632

Asia WGS AF: 0.666 AC: 2315 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.031
DANN	Benign	0.69
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs6597818; hg19: chr10-128533154;