chr8-127513023-C-A

Variant names:

• chr8-127513023-C-A
• rs7017300

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 0.812 in 152,146 control chromosomes in the GnomAD database, including 50,549 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 0.81 (50549 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.778

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.861 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: 0.812 AC: 123466 AN: 152028 Hom.: 50526 Cov.: 32

Gnomad AFR AF: 0.706

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.840

Gnomad ASJ AF: 0.925

Gnomad EAS AF: 0.753

Gnomad SAS AF: 0.833

Gnomad FIN AF: 0.802

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.867

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.812 AC: 123531 AN: 152146 Hom.: 50549 Cov.: 32 AF XY: 0.811 AC XY: 60284 AN XY: 74364

Gnomad4 AFR AF: 0.706

Gnomad4 AMR AF: 0.839

Gnomad4 ASJ AF: 0.925

Gnomad4 EAS AF: 0.753

Gnomad4 SAS AF: 0.833

Gnomad4 FIN AF: 0.802

Gnomad4 NFE AF: 0.867

Gnomad4 OTH AF: 0.846

Alfa AF: 0.861 Hom.: 114598

Bravo AF: 0.807

Asia WGS AF: 0.735 AC: 2560 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	0.40
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7017300; hg19: chr8-128525268;