rs7465272

Variant names:

• chr8-142610477-T-A
• rs7465272

Your query was ambiguous. Multiple possible variants found:

• chr8-142610477-T-A
• chr8-142610477-T-C

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 0.206 in 152,290 control chromosomes in the GnomAD database, including 3,526 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 0.21 (3526 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0330
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.282 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: 0.206 AC: 31371 AN: 152172 Hom.: 3532 Cov.: 35

Gnomad AFR AF: 0.127

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.198

Gnomad ASJ AF: 0.353

Gnomad EAS AF: 0.196

Gnomad SAS AF: 0.294

Gnomad FIN AF: 0.210

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.234

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

GnomAD4 genome AF: 0.206 AC: 31369 AN: 152290 Hom.: 3526 Cov.: 35 AF XY: 0.208 AC XY: 15508 AN XY: 74462

African (AFR) AF: 0.127 AC: 5288 AN: 41578

American (AMR) AF: 0.198 AC: 3029 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.353 AC: 1224 AN: 3472

East Asian (EAS) AF: 0.196 AC: 1016 AN: 5180

South Asian (SAS) AF: 0.295 AC: 1425 AN: 4830

European-Finnish (FIN) AF: 0.210 AC: 2227 AN: 10604

Middle Eastern (MID) AF: 0.401 AC: 118 AN: 294

European-Non Finnish (NFE) AF: 0.238 AC: 16191 AN: 68006

Other (OTH) AF: 0.231 AC: 488 AN: 2116

Alfa AF: 0.213 Hom.: 458

Bravo AF: 0.198

Asia WGS AF: 0.216 AC: 756 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.32
DANN	Benign	0.61
PhyloP100		-0.033

Splicing

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

Other links and lift over

dbSNP: rs7465272; hg19: chr8-143691838;