rs6987276

Variant names:

• chr8-95897704-G-A
• rs6987276

Your query was ambiguous. Multiple possible variants found:

• chr8-95897704-G-A
• chr8-95897704-G-C

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 0.631 in 151,996 control chromosomes in the GnomAD database, including 31,520 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 0.63 (31520 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.217
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.811 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: 0.631 AC: 95879 AN: 151878 Hom.: 31516 Cov.: 32

Gnomad AFR AF: 0.442

Gnomad AMI AF: 0.675

Gnomad AMR AF: 0.577

Gnomad ASJ AF: 0.620

Gnomad EAS AF: 0.831

Gnomad SAS AF: 0.704

Gnomad FIN AF: 0.731

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.722

Gnomad OTH AF: 0.650

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

GnomAD4 genome AF: 0.631 AC: 95898 AN: 151996 Hom.: 31520 Cov.: 32 AF XY: 0.634 AC XY: 47111 AN XY: 74302

African (AFR) AF: 0.441 AC: 18278 AN: 41412

American (AMR) AF: 0.577 AC: 8801 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.620 AC: 2148 AN: 3466

East Asian (EAS) AF: 0.831 AC: 4303 AN: 5176

South Asian (SAS) AF: 0.704 AC: 3385 AN: 4810

European-Finnish (FIN) AF: 0.731 AC: 7724 AN: 10570

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.722 AC: 49070 AN: 67984

Other (OTH) AF: 0.652 AC: 1374 AN: 2108

Alfa AF: 0.682 Hom.: 16245

Bravo AF: 0.610

Asia WGS AF: 0.734 AC: 2555 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	4.4
DANN	Benign	0.27
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs6987276; hg19: chr8-96909932;