rs4722585

Variant names:

• chr7-26143746-G-A
• rs4722585

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 0.452 in 152,038 control chromosomes in the GnomAD database, including 16,505 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 0.45 (16505 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.182
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.606 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: 0.452 AC: 68642 AN: 151920 Hom.: 16508 Cov.: 32

Gnomad AFR AF: 0.304

Gnomad AMI AF: 0.605

Gnomad AMR AF: 0.362

Gnomad ASJ AF: 0.570

Gnomad EAS AF: 0.625

Gnomad SAS AF: 0.589

Gnomad FIN AF: 0.531

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.517

Gnomad OTH AF: 0.475

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

GnomAD4 genome AF: 0.452 AC: 68652 AN: 152038 Hom.: 16505 Cov.: 32 AF XY: 0.453 AC XY: 33660 AN XY: 74300

African (AFR) AF: 0.304 AC: 12609 AN: 41472

American (AMR) AF: 0.361 AC: 5515 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.570 AC: 1980 AN: 3472

East Asian (EAS) AF: 0.624 AC: 3226 AN: 5170

South Asian (SAS) AF: 0.589 AC: 2835 AN: 4816

European-Finnish (FIN) AF: 0.531 AC: 5593 AN: 10536

Middle Eastern (MID) AF: 0.588 AC: 173 AN: 294

European-Non Finnish (NFE) AF: 0.517 AC: 35168 AN: 67980

Other (OTH) AF: 0.475 AC: 1002 AN: 2108

Alfa AF: 0.495 Hom.: 76568

Bravo AF: 0.430

Asia WGS AF: 0.580 AC: 2018 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	6.8
DANN	Benign	0.76
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs4722585; hg19: chr7-26183366;