rs4876265

Variant names:

• chr8-1968181-A-C
• rs4876265

Your query was ambiguous. Multiple possible variants found:

• chr8-1968181-A-C
• chr8-1968181-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.308 in 152,172 control chromosomes in the GnomAD database, including 7,415 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 0.31 (7415 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.321

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.38 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: 0.308 AC: 46906 AN: 152052 Hom.: 7415 Cov.: 33

Gnomad AFR AF: 0.354

Gnomad AMI AF: 0.379

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.321

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.271

Gnomad FIN AF: 0.315

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.323

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

GnomAD4 genome AF: 0.308 AC: 46939 AN: 152172 Hom.: 7415 Cov.: 33 AF XY: 0.312 AC XY: 23230 AN XY: 74396

Gnomad4 AFR AF: 0.354

Gnomad4 AMR AF: 0.337

Gnomad4 ASJ AF: 0.321

Gnomad4 EAS AF: 0.394

Gnomad4 SAS AF: 0.271

Gnomad4 FIN AF: 0.315

Gnomad4 NFE AF: 0.268

Gnomad4 OTH AF: 0.320

Alfa AF: 0.276 Hom.: 6277

Bravo AF: 0.317

Asia WGS AF: 0.296 AC: 1028 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.0
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4876265; hg19: chr8-1916347;