rs2976436

Variant names:

• chr8-24958641-A-G
• rs2976436

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 0.547 in 151,938 control chromosomes in the GnomAD database, including 24,454 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 0.55 (24454 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.270
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.653 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: 0.547 AC: 83076 AN: 151820 Hom.: 24444 Cov.: 31

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.583

Gnomad AMR AF: 0.664

Gnomad ASJ AF: 0.531

Gnomad EAS AF: 0.585

Gnomad SAS AF: 0.671

Gnomad FIN AF: 0.610

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.640

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.547 AC: 83115 AN: 151938 Hom.: 24454 Cov.: 31 AF XY: 0.551 AC XY: 40911 AN XY: 74242

African (AFR) AF: 0.316 AC: 13115 AN: 41442

American (AMR) AF: 0.664 AC: 10146 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.531 AC: 1840 AN: 3464

East Asian (EAS) AF: 0.586 AC: 3011 AN: 5136

South Asian (SAS) AF: 0.671 AC: 3226 AN: 4806

European-Finnish (FIN) AF: 0.610 AC: 6432 AN: 10546

Middle Eastern (MID) AF: 0.558 AC: 164 AN: 294

European-Non Finnish (NFE) AF: 0.640 AC: 43494 AN: 67954

Other (OTH) AF: 0.547 AC: 1155 AN: 2110

Alfa AF: 0.596 Hom.: 9737

Bravo AF: 0.541

Asia WGS AF: 0.642 AC: 2231 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.8
DANN	Benign	0.42
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs2976436; hg19: chr8-24816155;