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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.631 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

Gnomad4 AFR AF: 0.441

Gnomad4 AMR AF: 0.577

Gnomad4 ASJ AF: 0.620

Gnomad4 EAS AF: 0.831

Gnomad4 SAS AF: 0.704

Gnomad4 FIN AF: 0.731

Gnomad4 NFE AF: 0.722

Gnomad4 OTH AF: 0.652

Alfa AF: 0.682 Hom.: 14242

Bravo AF: 0.610

Asia WGS AF: 0.734 AC: 2555 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6987276; hg19: chr8-96909932;