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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.569 AC: 23589 AN: 41424

American (AMR) AF: 0.529 AC: 8076 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.533 AC: 1849 AN: 3468

East Asian (EAS) AF: 0.859 AC: 4449 AN: 5182

South Asian (SAS) AF: 0.648 AC: 3119 AN: 4810

European-Finnish (FIN) AF: 0.563 AC: 5949 AN: 10560

Middle Eastern (MID) AF: 0.548 AC: 161 AN: 294

European-Non Finnish (NFE) AF: 0.540 AC: 36670 AN: 67936

Other (OTH) AF: 0.562 AC: 1184 AN: 2106

Alfa AF: 0.544 Hom.: 95621

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
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs7798144; hg19: chr7-22147562;