rs1936168

Variant names:

• chr6-86311507-T-A
• rs1936168

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 0.26 in 151,660 control chromosomes in the GnomAD database, including 5,922 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 0.26 (5922 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0770
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.405 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: 0.260 AC: 39351 AN: 151540 Hom.: 5920 Cov.: 32

Gnomad AFR AF: 0.411

Gnomad AMI AF: 0.170

Gnomad AMR AF: 0.261

Gnomad ASJ AF: 0.243

Gnomad EAS AF: 0.371

Gnomad SAS AF: 0.197

Gnomad FIN AF: 0.145

Gnomad MID AF: 0.210

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.230

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

GnomAD4 genome AF: 0.260 AC: 39399 AN: 151660 Hom.: 5922 Cov.: 32 AF XY: 0.259 AC XY: 19171 AN XY: 74104

African (AFR) AF: 0.411 AC: 16987 AN: 41372

American (AMR) AF: 0.262 AC: 3994 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.243 AC: 842 AN: 3468

East Asian (EAS) AF: 0.372 AC: 1913 AN: 5146

South Asian (SAS) AF: 0.197 AC: 947 AN: 4802

European-Finnish (FIN) AF: 0.145 AC: 1525 AN: 10494

Middle Eastern (MID) AF: 0.212 AC: 62 AN: 292

European-Non Finnish (NFE) AF: 0.184 AC: 12495 AN: 67842

Other (OTH) AF: 0.229 AC: 480 AN: 2100

Alfa AF: 0.224 Hom.: 523

Bravo AF: 0.278

Asia WGS AF: 0.268 AC: 929 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	5.0
DANN	Benign	0.32
PhyloP100		0.077

Splicing

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

Other links and lift over

dbSNP: rs1936168; hg19: chr6-87021225;