rs4448295

Variant names:

• chr8-7064168-G-A
• rs4448295

Your query was ambiguous. Multiple possible variants found:

• chr8-7064168-G-A
• chr8-7064168-G-C
• chr8-7064168-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 0.056 in 152,178 control chromosomes in the GnomAD database, including 720 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 0.056 (720 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.352
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.353 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: 0.0561 AC: 8533 AN: 152060 Hom.: 722 Cov.: 32

Gnomad AFR AF: 0.0129

Gnomad AMI AF: 0.00220

Gnomad AMR AF: 0.162

Gnomad ASJ AF: 0.0285

Gnomad EAS AF: 0.367

Gnomad SAS AF: 0.153

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0307

Gnomad OTH AF: 0.0497

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

GnomAD4 genome AF: 0.0560 AC: 8527 AN: 152178 Hom.: 720 Cov.: 32 AF XY: 0.0627 AC XY: 4664 AN XY: 74390

African (AFR) AF: 0.0129 AC: 536 AN: 41544

American (AMR) AF: 0.162 AC: 2472 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0285 AC: 99 AN: 3470

East Asian (EAS) AF: 0.367 AC: 1887 AN: 5138

South Asian (SAS) AF: 0.152 AC: 733 AN: 4812

European-Finnish (FIN) AF: 0.0553 AC: 587 AN: 10610

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.0307 AC: 2091 AN: 68006

Other (OTH) AF: 0.0516 AC: 109 AN: 2114

Alfa AF: 0.0457 Hom.: 218

Bravo AF: 0.0640

Asia WGS AF: 0.223 AC: 773 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.021
DANN	Benign	0.27
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs4448295; hg19: chr8-6921690;