rs7810220

Variant names:

• chr7-52654736-T-C
• rs7810220

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 0.305 in 152,074 control chromosomes in the GnomAD database, including 7,550 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 (7550 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.34 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: 0.305 AC: 46334 AN: 151956 Hom.: 7546 Cov.: 32

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.169

Gnomad AMR AF: 0.299

Gnomad ASJ AF: 0.321

Gnomad EAS AF: 0.102

Gnomad SAS AF: 0.281

Gnomad FIN AF: 0.451

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.298

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

GnomAD4 genome AF: 0.305 AC: 46331 AN: 152074 Hom.: 7550 Cov.: 32 AF XY: 0.308 AC XY: 22871 AN XY: 74318

African (AFR) AF: 0.236 AC: 9817 AN: 41514

American (AMR) AF: 0.298 AC: 4560 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.321 AC: 1112 AN: 3466

East Asian (EAS) AF: 0.102 AC: 524 AN: 5156

South Asian (SAS) AF: 0.281 AC: 1355 AN: 4822

European-Finnish (FIN) AF: 0.451 AC: 4755 AN: 10542

Middle Eastern (MID) AF: 0.269 AC: 79 AN: 294

European-Non Finnish (NFE) AF: 0.344 AC: 23353 AN: 67978

Other (OTH) AF: 0.295 AC: 622 AN: 2112

Alfa AF: 0.327 Hom.: 32914

Bravo AF: 0.288

Asia WGS AF: 0.195 AC: 677 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.22
DANN	Benign	0.70
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs7810220; hg19: chr7-52722432;