rs2527866

Variant names:

• chr7-157297602-C-A
• rs2527866

Your query was ambiguous. Multiple possible variants found:

• chr7-157297602-C-A
• chr7-157297602-C-G
• chr7-157297602-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 0.369 in 152,034 control chromosomes in the GnomAD database, including 10,692 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 0.37 (10692 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.147

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 (EAS) allele frequency at 95% confidence interval = 0.512 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: 0.369 AC: 56066 AN: 151916 Hom.: 10681 Cov.: 33

Gnomad AFR AF: 0.386

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.443

Gnomad ASJ AF: 0.266

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.355

Gnomad FIN AF: 0.459

Gnomad MID AF: 0.345

Gnomad NFE AF: 0.323

Gnomad OTH AF: 0.367

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

GnomAD4 genome AF: 0.369 AC: 56108 AN: 152034 Hom.: 10692 Cov.: 33 AF XY: 0.379 AC XY: 28166 AN XY: 74330

Gnomad4 AFR AF: 0.386

Gnomad4 AMR AF: 0.444

Gnomad4 ASJ AF: 0.266

Gnomad4 EAS AF: 0.529

Gnomad4 SAS AF: 0.354

Gnomad4 FIN AF: 0.459

Gnomad4 NFE AF: 0.323

Gnomad4 OTH AF: 0.372

Alfa AF: 0.342 Hom.: 8391

Bravo AF: 0.369

Asia WGS AF: 0.429 AC: 1486 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	2.0
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2527866; hg19: chr7-157090296;