rs6987276

Positions:

• 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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;