rs236449

Variant names:

• chr6-36735066-G-A
• rs236449

Your query was ambiguous. Multiple possible variants found:

• chr6-36735066-G-A
• chr6-36735066-G-T

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 0.433 in 151,928 control chromosomes in the GnomAD database, including 14,343 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 0.43 (14343 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.237
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.467 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: 0.433 AC: 65774 AN: 151810 Hom.: 14339 Cov.: 31

Gnomad AFR AF: 0.430

Gnomad AMI AF: 0.414

Gnomad AMR AF: 0.350

Gnomad ASJ AF: 0.452

Gnomad EAS AF: 0.377

Gnomad SAS AF: 0.416

Gnomad FIN AF: 0.358

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.471

Gnomad OTH AF: 0.412

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

GnomAD4 genome AF: 0.433 AC: 65806 AN: 151928 Hom.: 14343 Cov.: 31 AF XY: 0.425 AC XY: 31572 AN XY: 74272

African (AFR) AF: 0.430 AC: 17791 AN: 41402

American (AMR) AF: 0.349 AC: 5335 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.452 AC: 1568 AN: 3472

East Asian (EAS) AF: 0.375 AC: 1942 AN: 5174

South Asian (SAS) AF: 0.417 AC: 2004 AN: 4802

European-Finnish (FIN) AF: 0.358 AC: 3785 AN: 10560

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.472 AC: 32027 AN: 67922

Other (OTH) AF: 0.407 AC: 860 AN: 2114

Alfa AF: 0.458 Hom.: 17681

Bravo AF: 0.430

Asia WGS AF: 0.350 AC: 1217 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.93
DANN	Benign	0.69
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs236449; hg19: chr6-36702843;