rs7814955

Variant names:

• chr8-126409845-G-A
• rs7814955

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 0.681 in 152,094 control chromosomes in the GnomAD database, including 36,740 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 (36740 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.21
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.885 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: 0.680 AC: 103411 AN: 151974 Hom.: 36686 Cov.: 32

Gnomad AFR AF: 0.893

Gnomad AMI AF: 0.748

Gnomad AMR AF: 0.550

Gnomad ASJ AF: 0.683

Gnomad EAS AF: 0.439

Gnomad SAS AF: 0.574

Gnomad FIN AF: 0.588

Gnomad MID AF: 0.691

Gnomad NFE AF: 0.620

Gnomad OTH AF: 0.667

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

GnomAD4 genome AF: 0.681 AC: 103505 AN: 152094 Hom.: 36740 Cov.: 32 AF XY: 0.673 AC XY: 49999 AN XY: 74346

African (AFR) AF: 0.893 AC: 37080 AN: 41526

American (AMR) AF: 0.549 AC: 8389 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.683 AC: 2370 AN: 3470

East Asian (EAS) AF: 0.438 AC: 2265 AN: 5170

South Asian (SAS) AF: 0.574 AC: 2761 AN: 4812

European-Finnish (FIN) AF: 0.588 AC: 6201 AN: 10554

Middle Eastern (MID) AF: 0.680 AC: 200 AN: 294

European-Non Finnish (NFE) AF: 0.620 AC: 42141 AN: 67964

Other (OTH) AF: 0.671 AC: 1417 AN: 2112

Alfa AF: 0.636 Hom.: 125303

Bravo AF: 0.683

Asia WGS AF: 0.578 AC: 2012 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.034
DANN	Benign	0.34
PhyloP100		-3.2

Splicing

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

Other links and lift over

dbSNP: rs7814955; hg19: chr8-127422090;