chr8-135837811-T-G

Variant names:

• chr8-135837811-T-G
• rs4385494

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 0.539 in 151,914 control chromosomes in the GnomAD database, including 22,269 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 0.54 (22269 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.704
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.547 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: 0.539 AC: 81851 AN: 151796 Hom.: 22264 Cov.: 32

Gnomad AFR AF: 0.513

Gnomad AMI AF: 0.587

Gnomad AMR AF: 0.557

Gnomad ASJ AF: 0.520

Gnomad EAS AF: 0.362

Gnomad SAS AF: 0.560

Gnomad FIN AF: 0.629

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.551

Gnomad OTH AF: 0.508

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

GnomAD4 genome AF: 0.539 AC: 81878 AN: 151914 Hom.: 22269 Cov.: 32 AF XY: 0.543 AC XY: 40322 AN XY: 74220

African (AFR) AF: 0.513 AC: 21252 AN: 41446

American (AMR) AF: 0.557 AC: 8493 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.520 AC: 1801 AN: 3466

East Asian (EAS) AF: 0.363 AC: 1864 AN: 5140

South Asian (SAS) AF: 0.559 AC: 2693 AN: 4814

European-Finnish (FIN) AF: 0.629 AC: 6634 AN: 10542

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.551 AC: 37409 AN: 67938

Other (OTH) AF: 0.506 AC: 1066 AN: 2108

Alfa AF: 0.526 Hom.: 12971

Bravo AF: 0.529

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.1
DANN	Benign	0.72
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs4385494; hg19: chr8-136850054;