8-43285414-A-C

Variant names:

• chr8-43285414-A-C
• rs7000815

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 0.127 in 152,146 control chromosomes in the GnomAD database, including 1,745 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 0.13 (1745 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.252 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: 0.126 AC: 19209 AN: 152028 Hom.: 1735 Cov.: 32

Gnomad AFR AF: 0.256

Gnomad AMI AF: 0.129

Gnomad AMR AF: 0.0687

Gnomad ASJ AF: 0.0202

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0943

Gnomad FIN AF: 0.120

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0803

Gnomad OTH AF: 0.0941

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

GnomAD4 genome AF: 0.127 AC: 19251 AN: 152146 Hom.: 1745 Cov.: 32 AF XY: 0.128 AC XY: 9503 AN XY: 74400

Gnomad4 AFR AF: 0.256

Gnomad4 AMR AF: 0.0687

Gnomad4 ASJ AF: 0.0202

Gnomad4 EAS AF: 0.000965

Gnomad4 SAS AF: 0.0940

Gnomad4 FIN AF: 0.120

Gnomad4 NFE AF: 0.0803

Gnomad4 OTH AF: 0.0926

Alfa AF: 0.0770 Hom.: 273

Bravo AF: 0.127

Asia WGS AF: 0.0670 AC: 233 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	2.9
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7000815; hg19: chr8-43140557;