rs7798144

Variant names:

• chr7-22107944-G-A
• rs7798144

Your query was ambiguous. Multiple possible variants found:

• chr7-22107944-G-A
• chr7-22107944-G-C
• chr7-22107944-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 0.564 in 151,972 control chromosomes in the GnomAD database, including 24,409 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 0.56 (24409 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.37

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.837 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: 0.564 AC: 85598 AN: 151852 Hom.: 24379 Cov.: 32

Gnomad AFR AF: 0.569

Gnomad AMI AF: 0.695

Gnomad AMR AF: 0.528

Gnomad ASJ AF: 0.533

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.650

Gnomad FIN AF: 0.563

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.540

Gnomad OTH AF: 0.560

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

GnomAD4 genome AF: 0.564 AC: 85680 AN: 151972 Hom.: 24409 Cov.: 32 AF XY: 0.570 AC XY: 42331 AN XY: 74272

Gnomad4 AFR AF: 0.569

Gnomad4 AMR AF: 0.529

Gnomad4 ASJ AF: 0.533

Gnomad4 EAS AF: 0.859

Gnomad4 SAS AF: 0.648

Gnomad4 FIN AF: 0.563

Gnomad4 NFE AF: 0.540

Gnomad4 OTH AF: 0.562

Alfa AF: 0.539 Hom.: 43735

Bravo AF: 0.561

Asia WGS AF: 0.689 AC: 2400 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.021
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7798144; hg19: chr7-22147562;