rs7801118

Variant names:

• chr7-127623832-G-A
• rs7801118

Your query was ambiguous. Multiple possible variants found:

• chr7-127623832-G-A
• chr7-127623832-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 0.219 in 152,030 control chromosomes in the GnomAD database, including 4,062 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 0.22 (4062 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.450

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 (AFR) allele frequency at 95% confidence interval = 0.323 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: 0.219 AC: 33293 AN: 151912 Hom.: 4048 Cov.: 32

Gnomad AFR AF: 0.328

Gnomad AMI AF: 0.116

Gnomad AMR AF: 0.169

Gnomad ASJ AF: 0.138

Gnomad EAS AF: 0.124

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.210

Gnomad MID AF: 0.108

Gnomad NFE AF: 0.177

Gnomad OTH AF: 0.196

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

GnomAD4 genome AF: 0.219 AC: 33336 AN: 152030 Hom.: 4062 Cov.: 32 AF XY: 0.220 AC XY: 16381 AN XY: 74316

Gnomad4 AFR AF: 0.328

Gnomad4 AMR AF: 0.169

Gnomad4 ASJ AF: 0.138

Gnomad4 EAS AF: 0.124

Gnomad4 SAS AF: 0.261

Gnomad4 FIN AF: 0.210

Gnomad4 NFE AF: 0.177

Gnomad4 OTH AF: 0.194

Alfa AF: 0.195 Hom.: 904

Bravo AF: 0.218

Asia WGS AF: 0.176 AC: 615 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	2.9
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7801118; hg19: chr7-127263886;