rs1936168

Variant names:

• chr6-86311507-T-A
• rs1936168

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.411

Gnomad4 AMR AF: 0.262

Gnomad4 ASJ AF: 0.243

Gnomad4 EAS AF: 0.372

Gnomad4 SAS AF: 0.197

Gnomad4 FIN AF: 0.145

Gnomad4 NFE AF: 0.184

Gnomad4 OTH AF: 0.229

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1936168; hg19: chr6-87021225;