8-6965263-A-G

Variant names:

• chr8-6965263-A-G
• rs2738048

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 0.285 in 151,908 control chromosomes in the GnomAD database, including 6,461 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 0.28 (6461 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.680
• Publications: 32 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.326 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: 0.285 AC: 43260 AN: 151790 Hom.: 6455 Cov.: 31

Gnomad AFR AF: 0.196

Gnomad AMI AF: 0.266

Gnomad AMR AF: 0.295

Gnomad ASJ AF: 0.303

Gnomad EAS AF: 0.339

Gnomad SAS AF: 0.303

Gnomad FIN AF: 0.384

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.290

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

GnomAD4 genome AF: 0.285 AC: 43291 AN: 151908 Hom.: 6461 Cov.: 31 AF XY: 0.289 AC XY: 21477 AN XY: 74252

African (AFR) AF: 0.196 AC: 8129 AN: 41440

American (AMR) AF: 0.295 AC: 4507 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.303 AC: 1051 AN: 3470

East Asian (EAS) AF: 0.339 AC: 1747 AN: 5154

South Asian (SAS) AF: 0.303 AC: 1454 AN: 4802

European-Finnish (FIN) AF: 0.384 AC: 4050 AN: 10538

Middle Eastern (MID) AF: 0.313 AC: 92 AN: 294

European-Non Finnish (NFE) AF: 0.315 AC: 21397 AN: 67934

Other (OTH) AF: 0.295 AC: 621 AN: 2108

Alfa AF: 0.301 Hom.: 24006

Bravo AF: 0.273

Asia WGS AF: 0.355 AC: 1236 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.2
DANN	Benign	0.22
PhyloP100		-0.68

Splicing

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

Other links and lift over

dbSNP: rs2738048; hg19: chr8-6822785;