8-77126826-C-T

Variant names:

• chr8-77126826-C-T
• rs10095813

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 0.568 in 151,984 control chromosomes in the GnomAD database, including 24,789 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 0.57 (24789 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.105
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.611 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: 0.568 AC: 86217 AN: 151868 Hom.: 24777 Cov.: 32

Gnomad AFR AF: 0.509

Gnomad AMI AF: 0.725

Gnomad AMR AF: 0.571

Gnomad ASJ AF: 0.464

Gnomad EAS AF: 0.502

Gnomad SAS AF: 0.497

Gnomad FIN AF: 0.572

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.616

Gnomad OTH AF: 0.554

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

GnomAD4 genome AF: 0.568 AC: 86260 AN: 151984 Hom.: 24789 Cov.: 32 AF XY: 0.565 AC XY: 41932 AN XY: 74274

African (AFR) AF: 0.509 AC: 21087 AN: 41450

American (AMR) AF: 0.570 AC: 8706 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.464 AC: 1609 AN: 3468

East Asian (EAS) AF: 0.503 AC: 2591 AN: 5154

South Asian (SAS) AF: 0.497 AC: 2393 AN: 4818

European-Finnish (FIN) AF: 0.572 AC: 6035 AN: 10556

Middle Eastern (MID) AF: 0.435 AC: 127 AN: 292

European-Non Finnish (NFE) AF: 0.616 AC: 41873 AN: 67962

Other (OTH) AF: 0.558 AC: 1179 AN: 2112

Alfa AF: 0.595 Hom.: 10632

Bravo AF: 0.562

Asia WGS AF: 0.519 AC: 1807 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.7
DANN	Benign	0.30
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs10095813; hg19: chr8-78039062;