rs11695811

Variant names:

• chr2-234306489-T-C
• rs11695811

Your query was ambiguous. Multiple possible variants found:

• chr2-234306489-T-C
• chr2-234306489-T-G

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 0.47 in 151,880 control chromosomes in the GnomAD database, including 17,208 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 0.47 (17208 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.575 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: 0.470 AC: 71344 AN: 151762 Hom.: 17197 Cov.: 31

Gnomad AFR AF: 0.403

Gnomad AMI AF: 0.376

Gnomad AMR AF: 0.583

Gnomad ASJ AF: 0.528

Gnomad EAS AF: 0.593

Gnomad SAS AF: 0.469

Gnomad FIN AF: 0.464

Gnomad MID AF: 0.554

Gnomad NFE AF: 0.475

Gnomad OTH AF: 0.466

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

GnomAD4 genome AF: 0.470 AC: 71385 AN: 151880 Hom.: 17208 Cov.: 31 AF XY: 0.473 AC XY: 35145 AN XY: 74232

African (AFR) AF: 0.403 AC: 16696 AN: 41402

American (AMR) AF: 0.583 AC: 8909 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.528 AC: 1833 AN: 3470

East Asian (EAS) AF: 0.592 AC: 3046 AN: 5142

South Asian (SAS) AF: 0.468 AC: 2258 AN: 4820

European-Finnish (FIN) AF: 0.464 AC: 4881 AN: 10520

Middle Eastern (MID) AF: 0.565 AC: 166 AN: 294

European-Non Finnish (NFE) AF: 0.475 AC: 32262 AN: 67938

Other (OTH) AF: 0.471 AC: 992 AN: 2106

Alfa AF: 0.481 Hom.: 28617

Bravo AF: 0.475

Asia WGS AF: 0.489 AC: 1699 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	6.0
DANN	Benign	0.64
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs11695811; hg19: chr2-235215133;