rs7840855

Variant names:

• chr8-26291232-C-T
• rs7840855

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 0.347 in 152,094 control chromosomes in the GnomAD database, including 11,378 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 0.35 (11378 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0260
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.466 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.347 AC: 52712 AN: 151978 Hom.: 11370 Cov.: 32

Gnomad AFR AF: 0.114

Gnomad AMI AF: 0.363

Gnomad AMR AF: 0.328

Gnomad ASJ AF: 0.286

Gnomad EAS AF: 0.182

Gnomad SAS AF: 0.413

Gnomad FIN AF: 0.565

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.471

Gnomad OTH AF: 0.334

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

GnomAD4 genome AF: 0.347 AC: 52731 AN: 152094 Hom.: 11378 Cov.: 32 AF XY: 0.352 AC XY: 26172 AN XY: 74336

African (AFR) AF: 0.114 AC: 4730 AN: 41524

American (AMR) AF: 0.327 AC: 4995 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.286 AC: 989 AN: 3464

East Asian (EAS) AF: 0.181 AC: 935 AN: 5164

South Asian (SAS) AF: 0.416 AC: 2008 AN: 4830

European-Finnish (FIN) AF: 0.565 AC: 5978 AN: 10572

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.471 AC: 31977 AN: 67948

Other (OTH) AF: 0.339 AC: 715 AN: 2112

Alfa AF: 0.415 Hom.: 17936

Bravo AF: 0.316

Asia WGS AF: 0.309 AC: 1073 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	6.1
DANN	Benign	0.66
PhyloP100		-0.026
PromoterAI		0.0096	Neutral

Splicing

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

Other links and lift over

dbSNP: rs7840855; hg19: chr8-26148748;