rs12675595

Variant names:

• chr8-53255365-G-A
• rs12675595

Your query was ambiguous. Multiple possible variants found:

• chr8-53255365-G-A
• chr8-53255365-G-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 0.0625 in 152,240 control chromosomes in the GnomAD database, including 323 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 0.062 (323 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0220
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0757 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: 0.0625 AC: 9509 AN: 152120 Hom.: 320 Cov.: 32

Gnomad AFR AF: 0.0381

Gnomad AMI AF: 0.0724

Gnomad AMR AF: 0.0538

Gnomad ASJ AF: 0.0809

Gnomad EAS AF: 0.0753

Gnomad SAS AF: 0.0527

Gnomad FIN AF: 0.0620

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.0774

Gnomad OTH AF: 0.0708

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

GnomAD4 genome AF: 0.0625 AC: 9510 AN: 152240 Hom.: 323 Cov.: 32 AF XY: 0.0624 AC XY: 4643 AN XY: 74416

African (AFR) AF: 0.0381 AC: 1581 AN: 41544

American (AMR) AF: 0.0537 AC: 821 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0809 AC: 281 AN: 3472

East Asian (EAS) AF: 0.0753 AC: 389 AN: 5164

South Asian (SAS) AF: 0.0525 AC: 253 AN: 4816

European-Finnish (FIN) AF: 0.0620 AC: 658 AN: 10608

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.0774 AC: 5268 AN: 68028

Other (OTH) AF: 0.0710 AC: 150 AN: 2112

Alfa AF: 0.0652 Hom.: 193

Bravo AF: 0.0610

Asia WGS AF: 0.0730 AC: 254 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.6
DANN	Benign	0.37
PhyloP100		-0.022

Splicing

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

Other links and lift over

dbSNP: rs12675595; hg19: chr8-54167925;