chr8-49761210-G-C

Variant names:

• chr8-49761210-G-C
• rs7821848

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 0.684 in 151,864 control chromosomes in the GnomAD database, including 39,596 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 0.68 (39596 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.849 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: 0.684 AC: 103794 AN: 151746 Hom.: 39598 Cov.: 30

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.883

Gnomad AMR AF: 0.748

Gnomad ASJ AF: 0.763

Gnomad EAS AF: 0.871

Gnomad SAS AF: 0.782

Gnomad FIN AF: 0.866

Gnomad MID AF: 0.707

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.691

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

GnomAD4 genome AF: 0.684 AC: 103805 AN: 151864 Hom.: 39596 Cov.: 30 AF XY: 0.689 AC XY: 51096 AN XY: 74206

African (AFR) AF: 0.315 AC: 13043 AN: 41386

American (AMR) AF: 0.748 AC: 11403 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.763 AC: 2648 AN: 3470

East Asian (EAS) AF: 0.871 AC: 4468 AN: 5132

South Asian (SAS) AF: 0.781 AC: 3749 AN: 4800

European-Finnish (FIN) AF: 0.866 AC: 9121 AN: 10534

Middle Eastern (MID) AF: 0.716 AC: 209 AN: 292

European-Non Finnish (NFE) AF: 0.837 AC: 56900 AN: 67988

Other (OTH) AF: 0.692 AC: 1459 AN: 2108

Alfa AF: 0.700 Hom.: 2785

Bravo AF: 0.660

Asia WGS AF: 0.768 AC: 2670 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.87
DANN	Benign	0.37
PhyloP100		0.0040

Splicing

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

Other links and lift over

dbSNP: rs7821848; hg19: chr8-50673770;