rs7777387

Variant names:

• chr7-22080819-G-C
• rs7777387

Your query was ambiguous. Multiple possible variants found:

• chr7-22080819-G-C
• chr7-22080819-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 0.113 in 152,180 control chromosomes in the GnomAD database, including 1,989 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 0.11 (1989 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.215
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.28 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: 0.113 AC: 17180 AN: 152062 Hom.: 1979 Cov.: 33

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.0362

Gnomad AMR AF: 0.110

Gnomad ASJ AF: 0.103

Gnomad EAS AF: 0.0835

Gnomad SAS AF: 0.194

Gnomad FIN AF: 0.00434

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0245

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.113 AC: 17214 AN: 152180 Hom.: 1989 Cov.: 33 AF XY: 0.115 AC XY: 8525 AN XY: 74400

African (AFR) AF: 0.285 AC: 11812 AN: 41480

American (AMR) AF: 0.109 AC: 1672 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.103 AC: 357 AN: 3470

East Asian (EAS) AF: 0.0835 AC: 433 AN: 5186

South Asian (SAS) AF: 0.193 AC: 930 AN: 4818

European-Finnish (FIN) AF: 0.00434 AC: 46 AN: 10596

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.0245 AC: 1663 AN: 68012

Other (OTH) AF: 0.108 AC: 229 AN: 2112

Alfa AF: 0.00852 Hom.: 11

Bravo AF: 0.127

Asia WGS AF: 0.175 AC: 610 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	1.4
DANN	Benign	0.56
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7777387; hg19: chr7-22120437;