rs10505472

Variant names:

• chr8-126404824-A-G
• rs10505472

Your query was ambiguous. Multiple possible variants found:

• chr8-126404824-A-G
• chr8-126404824-A-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 0.215 in 152,232 control chromosomes in the GnomAD database, including 3,501 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 (3501 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.131
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.235 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: 0.215 AC: 32662 AN: 152114 Hom.: 3494 Cov.: 33

Gnomad AFR AF: 0.214

Gnomad AMI AF: 0.368

Gnomad AMR AF: 0.226

Gnomad ASJ AF: 0.247

Gnomad EAS AF: 0.193

Gnomad SAS AF: 0.247

Gnomad FIN AF: 0.201

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.215 AC: 32686 AN: 152232 Hom.: 3501 Cov.: 33 AF XY: 0.214 AC XY: 15964 AN XY: 74440

African (AFR) AF: 0.214 AC: 8873 AN: 41520

American (AMR) AF: 0.225 AC: 3441 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.247 AC: 856 AN: 3468

East Asian (EAS) AF: 0.193 AC: 1001 AN: 5192

South Asian (SAS) AF: 0.247 AC: 1191 AN: 4826

European-Finnish (FIN) AF: 0.201 AC: 2127 AN: 10606

Middle Eastern (MID) AF: 0.245 AC: 72 AN: 294

European-Non Finnish (NFE) AF: 0.210 AC: 14295 AN: 68006

Other (OTH) AF: 0.234 AC: 494 AN: 2114

Alfa AF: 0.0950 Hom.: 144

Bravo AF: 0.213

Asia WGS AF: 0.286 AC: 994 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.2
DANN	Benign	0.41
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs10505472; hg19: chr8-127417069;