8-75663820-T-G

Variant names:

• chr8-75663820-T-G
• rs10504595

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 0.0651 in 152,252 control chromosomes in the GnomAD database, including 358 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 0.065 (358 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.224
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.0908 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: 0.0651 AC: 9902 AN: 152134 Hom.: 360 Cov.: 32

Gnomad AFR AF: 0.0671

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0947

Gnomad ASJ AF: 0.142

Gnomad EAS AF: 0.0859

Gnomad SAS AF: 0.0356

Gnomad FIN AF: 0.0276

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0590

Gnomad OTH AF: 0.0942

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

GnomAD4 genome AF: 0.0651 AC: 9910 AN: 152252 Hom.: 358 Cov.: 32 AF XY: 0.0642 AC XY: 4782 AN XY: 74458

African (AFR) AF: 0.0670 AC: 2784 AN: 41536

American (AMR) AF: 0.0948 AC: 1450 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.142 AC: 493 AN: 3472

East Asian (EAS) AF: 0.0863 AC: 447 AN: 5180

South Asian (SAS) AF: 0.0356 AC: 172 AN: 4830

European-Finnish (FIN) AF: 0.0276 AC: 293 AN: 10622

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.0590 AC: 4010 AN: 68000

Other (OTH) AF: 0.0932 AC: 197 AN: 2114

Alfa AF: 0.0540 Hom.: 135

Bravo AF: 0.0745

Asia WGS AF: 0.0580 AC: 201 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	6.6
DANN	Benign	0.56
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs10504595; hg19: chr8-76576055;