rs602618

Variant names:

• chr10-111083327-C-A
• rs602618

Your query was ambiguous. Multiple possible variants found:

• chr10-111083327-C-A
• chr10-111083327-C-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 0.582 in 152,086 control chromosomes in the GnomAD database, including 28,550 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 0.58 (28550 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.339

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.723 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: 0.583 AC: 88570 AN: 151968 Hom.: 28562 Cov.: 32

Gnomad AFR AF: 0.321

Gnomad AMI AF: 0.763

Gnomad AMR AF: 0.614

Gnomad ASJ AF: 0.720

Gnomad EAS AF: 0.329

Gnomad SAS AF: 0.456

Gnomad FIN AF: 0.741

Gnomad MID AF: 0.621

Gnomad NFE AF: 0.729

Gnomad OTH AF: 0.599

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

GnomAD4 genome AF: 0.582 AC: 88577 AN: 152086 Hom.: 28550 Cov.: 32 AF XY: 0.580 AC XY: 43105 AN XY: 74344

Gnomad4 AFR AF: 0.321

Gnomad4 AMR AF: 0.613

Gnomad4 ASJ AF: 0.720

Gnomad4 EAS AF: 0.330

Gnomad4 SAS AF: 0.458

Gnomad4 FIN AF: 0.741

Gnomad4 NFE AF: 0.729

Gnomad4 OTH AF: 0.591

Alfa AF: 0.698 Hom.: 50243

Bravo AF: 0.565

Asia WGS AF: 0.367 AC: 1277 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.42
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs602618; hg19: chr10-112843085;