rs79236614

Variant names:

• chr8-20002949-C-G
• rs79236614

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 0.0976 in 152,166 control chromosomes in the GnomAD database, including 727 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 0.098 (727 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.0994 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.0977 AC: 14858 AN: 152048 Hom.: 728 Cov.: 32

Gnomad AFR AF: 0.0976

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.0798

Gnomad ASJ AF: 0.103

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.0995

Gnomad FIN AF: 0.0907

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.101

Gnomad OTH AF: 0.0908

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

GnomAD4 genome AF: 0.0976 AC: 14849 AN: 152166 Hom.: 727 Cov.: 32 AF XY: 0.0966 AC XY: 7188 AN XY: 74394

African (AFR) AF: 0.0974 AC: 4043 AN: 41514

American (AMR) AF: 0.0797 AC: 1219 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.103 AC: 358 AN: 3470

East Asian (EAS) AF: 0.107 AC: 552 AN: 5172

South Asian (SAS) AF: 0.0994 AC: 478 AN: 4808

European-Finnish (FIN) AF: 0.0907 AC: 961 AN: 10592

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.101 AC: 6878 AN: 68008

Other (OTH) AF: 0.0898 AC: 189 AN: 2104

Alfa AF: 0.0940 Hom.: 86

Bravo AF: 0.0965

Asia WGS AF: 0.106 AC: 367 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.2
DANN	Benign	0.26
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs79236614; hg19: chr8-19860460;