8-49693050-A-G

Variant names:

• chr8-49693050-A-G
• rs2385525

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 0.106 in 152,256 control chromosomes in the GnomAD database, including 913 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 0.11 (913 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.626
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.174 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.106 AC: 16190 AN: 152138 Hom.: 912 Cov.: 33

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.0976

Gnomad AMR AF: 0.138

Gnomad ASJ AF: 0.0596

Gnomad EAS AF: 0.0894

Gnomad SAS AF: 0.183

Gnomad FIN AF: 0.0365

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.0888

Gnomad OTH AF: 0.122

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

GnomAD4 genome AF: 0.106 AC: 16202 AN: 152256 Hom.: 913 Cov.: 33 AF XY: 0.105 AC XY: 7839 AN XY: 74442

African (AFR) AF: 0.138 AC: 5725 AN: 41544

American (AMR) AF: 0.138 AC: 2115 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0596 AC: 207 AN: 3472

East Asian (EAS) AF: 0.0900 AC: 466 AN: 5178

South Asian (SAS) AF: 0.184 AC: 886 AN: 4820

European-Finnish (FIN) AF: 0.0365 AC: 388 AN: 10622

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.0888 AC: 6036 AN: 68006

Other (OTH) AF: 0.121 AC: 256 AN: 2116

Alfa AF: 0.102 Hom.: 341

Bravo AF: 0.115

Asia WGS AF: 0.143 AC: 499 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.56
DANN	Benign	0.35
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs2385525; hg19: chr8-50605610;