rs11155996

Variant names:

• chr6-154643016-G-A
• rs11155996

Your query was ambiguous. Multiple possible variants found:

• chr6-154643016-G-A
• chr6-154643016-G-C

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 0.341 in 150,310 control chromosomes in the GnomAD database, including 10,213 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 0.34 (10213 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.37
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.417 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: 0.341 AC: 51260 AN: 150194 Hom.: 10201 Cov.: 31

Gnomad AFR AF: 0.422

Gnomad AMI AF: 0.228

Gnomad AMR AF: 0.257

Gnomad ASJ AF: 0.372

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.204

Gnomad FIN AF: 0.349

Gnomad MID AF: 0.295

Gnomad NFE AF: 0.320

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.341 AC: 51311 AN: 150310 Hom.: 10213 Cov.: 31 AF XY: 0.339 AC XY: 24876 AN XY: 73292

African (AFR) AF: 0.423 AC: 17443 AN: 41268

American (AMR) AF: 0.257 AC: 3783 AN: 14748

Ashkenazi Jewish (ASJ) AF: 0.372 AC: 1271 AN: 3414

East Asian (EAS) AF: 0.315 AC: 1624 AN: 5152

South Asian (SAS) AF: 0.204 AC: 973 AN: 4760

European-Finnish (FIN) AF: 0.349 AC: 3589 AN: 10290

Middle Eastern (MID) AF: 0.301 AC: 86 AN: 286

European-Non Finnish (NFE) AF: 0.320 AC: 21588 AN: 67420

Other (OTH) AF: 0.361 AC: 751 AN: 2082

Alfa AF: 0.332 Hom.: 3817

Bravo AF: 0.337

Asia WGS AF: 0.266 AC: 926 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.43
DANN	Benign	0.67
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs11155996; hg19: chr6-154964150;