8-127487666-T-C

Variant names:

• chr8-127487666-T-C
• rs4871024

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 0.898 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.906 AC: 37357 AN: 41236

American (AMR) AF: 0.925 AC: 14074 AN: 15220

Ashkenazi Jewish (ASJ) AF: 0.940 AC: 3257 AN: 3464

East Asian (EAS) AF: 0.845 AC: 4332 AN: 5124

South Asian (SAS) AF: 0.869 AC: 4149 AN: 4776

European-Finnish (FIN) AF: 0.835 AC: 8517 AN: 10202

Middle Eastern (MID) AF: 0.969 AC: 285 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 60952 AN: 67670

Other (OTH) AF: 0.904 AC: 1897 AN: 2098

Alfa AF: 0.889 Hom.: 6477

Bravo AF: 0.903

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	9.0
DANN	Benign	0.32
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs4871024; hg19: chr8-128499911;