8-127487666-T-C

Variant names:

• chr8-127487666-T-C
• rs4871024

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 0.898 in 150,994 control chromosomes in the GnomAD database, including 60,985 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 0.90 (60985 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.912 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: 0.898 AC: 135536 AN: 150874 Hom.: 60936 Cov.: 28

Gnomad AFR AF: 0.906

Gnomad AMI AF: 0.903

Gnomad AMR AF: 0.925

Gnomad ASJ AF: 0.940

Gnomad EAS AF: 0.846

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.835

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.909

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

GnomAD4 genome AF: 0.898 AC: 135642 AN: 150994 Hom.: 60985 Cov.: 28 AF XY: 0.896 AC XY: 66017 AN XY: 73714

Gnomad4 AFR AF: 0.906

Gnomad4 AMR AF: 0.925

Gnomad4 ASJ AF: 0.940

Gnomad4 EAS AF: 0.845

Gnomad4 SAS AF: 0.869

Gnomad4 FIN AF: 0.835

Gnomad4 NFE AF: 0.901

Gnomad4 OTH AF: 0.904

Alfa AF: 0.889 Hom.: 6477

Bravo AF: 0.903

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	9.0
DANN	Benign	0.32

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4871024; hg19: chr8-128499911;