chr8-127484531-A-G

Variant names:

• chr8-127484531-A-G
• rs6985504

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 0.733 in 152,010 control chromosomes in the GnomAD database, including 40,983 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 0.73 (40983 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.777
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.776 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: 0.733 AC: 111318 AN: 151890 Hom.: 40956 Cov.: 31

Gnomad AFR AF: 0.685

Gnomad AMI AF: 0.803

Gnomad AMR AF: 0.787

Gnomad ASJ AF: 0.767

Gnomad EAS AF: 0.696

Gnomad SAS AF: 0.788

Gnomad FIN AF: 0.701

Gnomad MID AF: 0.763

Gnomad NFE AF: 0.751

Gnomad OTH AF: 0.725

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

GnomAD4 genome AF: 0.733 AC: 111392 AN: 152010 Hom.: 40983 Cov.: 31 AF XY: 0.734 AC XY: 54525 AN XY: 74300

African (AFR) AF: 0.685 AC: 28415 AN: 41494

American (AMR) AF: 0.787 AC: 12032 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.767 AC: 2660 AN: 3468

East Asian (EAS) AF: 0.696 AC: 3597 AN: 5170

South Asian (SAS) AF: 0.789 AC: 3800 AN: 4816

European-Finnish (FIN) AF: 0.701 AC: 7373 AN: 10516

Middle Eastern (MID) AF: 0.759 AC: 223 AN: 294

European-Non Finnish (NFE) AF: 0.751 AC: 51042 AN: 67956

Other (OTH) AF: 0.722 AC: 1518 AN: 2102

Alfa AF: 0.749 Hom.: 52354

Bravo AF: 0.734

Asia WGS AF: 0.706 AC: 2457 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	6.3
DANN	Benign	0.29
PhyloP100		0.78

Splicing

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

Other links and lift over

dbSNP: rs6985504; hg19: chr8-128496776;