rs4897695

Positions:

• chr8-133864122-C-G

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 0.0806 in 152,234 control chromosomes in the GnomAD database, including 483 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 0.081 (483 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0320

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0866 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0805 AC: 12245 AN: 152116 Hom.: 482 Cov.: 32

Gnomad AFR AF: 0.0888

Gnomad AMI AF: 0.0800

Gnomad AMR AF: 0.0705

Gnomad ASJ AF: 0.0810

Gnomad EAS AF: 0.0472

Gnomad SAS AF: 0.0768

Gnomad FIN AF: 0.0624

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0830

Gnomad OTH AF: 0.0861

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

GnomAD4 genome AF: 0.0806 AC: 12263 AN: 152234 Hom.: 483 Cov.: 32 AF XY: 0.0799 AC XY: 5946 AN XY: 74442

Gnomad4 AFR AF: 0.0890

Gnomad4 AMR AF: 0.0704

Gnomad4 ASJ AF: 0.0810

Gnomad4 EAS AF: 0.0471

Gnomad4 SAS AF: 0.0771

Gnomad4 FIN AF: 0.0624

Gnomad4 NFE AF: 0.0831

Gnomad4 OTH AF: 0.0848

Alfa AF: 0.0834 Hom.: 63

Bravo AF: 0.0824

Asia WGS AF: 0.0530 AC: 184 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.8
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4897695; hg19: chr8-134876365;