rs7814955

Positions:

• chr8-126409845-G-A

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 0.681 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.893

Gnomad4 AMR AF: 0.549

Gnomad4 ASJ AF: 0.683

Gnomad4 EAS AF: 0.438

Gnomad4 SAS AF: 0.574

Gnomad4 FIN AF: 0.588

Gnomad4 NFE AF: 0.620

Gnomad4 OTH AF: 0.671

Alfa AF: 0.632 Hom.: 51618

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7814955; hg19: chr8-127422090;