rs4738296

Variant names:

• chr8-72945304-A-C
• rs4738296

Your query was ambiguous. Multiple possible variants found:

• chr8-72945304-A-C
• chr8-72945304-A-G
• chr8-72945304-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 0.0913 in 152,196 control chromosomes in the GnomAD database, including 2,573 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 0.091 (2573 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.572
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.771 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: 0.0913 AC: 13890 AN: 152078 Hom.: 2573 Cov.: 32

Gnomad AFR AF: 0.0371

Gnomad AMI AF: 0.00329

Gnomad AMR AF: 0.244

Gnomad ASJ AF: 0.0542

Gnomad EAS AF: 0.791

Gnomad SAS AF: 0.289

Gnomad FIN AF: 0.0373

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0347

Gnomad OTH AF: 0.0922

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

GnomAD4 genome AF: 0.0913 AC: 13900 AN: 152196 Hom.: 2573 Cov.: 32 AF XY: 0.102 AC XY: 7562 AN XY: 74420

African (AFR) AF: 0.0372 AC: 1544 AN: 41540

American (AMR) AF: 0.245 AC: 3737 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.0542 AC: 188 AN: 3468

East Asian (EAS) AF: 0.791 AC: 4072 AN: 5146

South Asian (SAS) AF: 0.289 AC: 1396 AN: 4826

European-Finnish (FIN) AF: 0.0373 AC: 396 AN: 10620

Middle Eastern (MID) AF: 0.0306 AC: 9 AN: 294

European-Non Finnish (NFE) AF: 0.0347 AC: 2359 AN: 68002

Other (OTH) AF: 0.0932 AC: 196 AN: 2104

Alfa AF: 0.0631 Hom.: 5384

Bravo AF: 0.105

Asia WGS AF: 0.452 AC: 1570 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.6
DANN	Benign	0.64
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs4738296; hg19: chr8-73857539; COSMIC: COSV73728348;