rs6007220

Variant names:

• chr22-44630624-G-A
• rs6007220

Your query was ambiguous. Multiple possible variants found:

• chr22-44630624-G-A
• chr22-44630624-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 0.299 in 151,950 control chromosomes in the GnomAD database, including 12,743 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 0.30 (12743 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.38

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 = 0.738 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: 0.298 AC: 45260 AN: 151832 Hom.: 12689 Cov.: 31

Gnomad AFR AF: 0.744

Gnomad AMI AF: 0.0877

Gnomad AMR AF: 0.199

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.194

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.0877

Gnomad MID AF: 0.313

Gnomad NFE AF: 0.107

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.299 AC: 45369 AN: 151950 Hom.: 12743 Cov.: 31 AF XY: 0.293 AC XY: 21794 AN XY: 74268

Gnomad4 AFR AF: 0.745

Gnomad4 AMR AF: 0.199

Gnomad4 ASJ AF: 0.229

Gnomad4 EAS AF: 0.194

Gnomad4 SAS AF: 0.170

Gnomad4 FIN AF: 0.0877

Gnomad4 NFE AF: 0.107

Gnomad4 OTH AF: 0.272

Alfa AF: 0.159 Hom.: 3714

Bravo AF: 0.324

Asia WGS AF: 0.230 AC: 802 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	0.040
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: rs6007220; hg19: chr22-45026504;