rs7814955

Variant names:

• chr8-126409845-G-A
• rs7814955

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 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

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;