rs6966222

Variant names:

• chr7-55266309-T-A
• rs6966222

Your query was ambiguous. Multiple possible variants found:

• chr7-55266309-T-A
• chr7-55266309-T-G

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 0.132 in 152,240 control chromosomes in the GnomAD database, including 1,390 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 0.13 (1390 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.40

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.199 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: 0.132 AC: 20140 AN: 152122 Hom.: 1392 Cov.: 33

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.252

Gnomad AMR AF: 0.0965

Gnomad ASJ AF: 0.0859

Gnomad EAS AF: 0.203

Gnomad SAS AF: 0.210

Gnomad FIN AF: 0.142

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.135

Gnomad OTH AF: 0.127

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

GnomAD4 genome AF: 0.132 AC: 20144 AN: 152240 Hom.: 1390 Cov.: 33 AF XY: 0.134 AC XY: 9973 AN XY: 74428

Gnomad4 AFR AF: 0.123

Gnomad4 AMR AF: 0.0963

Gnomad4 ASJ AF: 0.0859

Gnomad4 EAS AF: 0.203

Gnomad4 SAS AF: 0.210

Gnomad4 FIN AF: 0.142

Gnomad4 NFE AF: 0.135

Gnomad4 OTH AF: 0.129

Alfa AF: 0.130 Hom.: 185

Bravo AF: 0.126

Asia WGS AF: 0.196 AC: 680 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	8.5
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6966222; hg19: chr7-55334002;