8-77656251-T-C

Variant names:

• chr8-77656251-T-C
• rs1397103

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 0.671 in 151,958 control chromosomes in the GnomAD database, including 34,248 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 0.67 (34248 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.260
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.692 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.671 AC: 101844 AN: 151842 Hom.: 34212 Cov.: 32

Gnomad AFR AF: 0.698

Gnomad AMI AF: 0.671

Gnomad AMR AF: 0.631

Gnomad ASJ AF: 0.612

Gnomad EAS AF: 0.590

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.681

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.683

Gnomad OTH AF: 0.653

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

GnomAD4 genome AF: 0.671 AC: 101933 AN: 151958 Hom.: 34248 Cov.: 32 AF XY: 0.663 AC XY: 49241 AN XY: 74252

African (AFR) AF: 0.698 AC: 28940 AN: 41446

American (AMR) AF: 0.631 AC: 9614 AN: 15248

Ashkenazi Jewish (ASJ) AF: 0.612 AC: 2126 AN: 3472

East Asian (EAS) AF: 0.589 AC: 3024 AN: 5130

South Asian (SAS) AF: 0.506 AC: 2439 AN: 4824

European-Finnish (FIN) AF: 0.681 AC: 7198 AN: 10574

Middle Eastern (MID) AF: 0.622 AC: 183 AN: 294

European-Non Finnish (NFE) AF: 0.683 AC: 46420 AN: 67948

Other (OTH) AF: 0.653 AC: 1377 AN: 2110

Alfa AF: 0.687 Hom.: 4622

Bravo AF: 0.672

Asia WGS AF: 0.533 AC: 1850 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.59
DANN	Benign	0.55
PhyloP100		-0.26

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs1397103;

hg19: chr8-78568487;