chr11-2027906-G-C

Variant names:

• chr11-2027906-G-C
• rs7106395

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.33 (1139 hom., cov: 4)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.27
• Publications: 2 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).

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: 0.331 AC: 5212 AN: 15730 Hom.: 1138 Cov.: 4

Gnomad AFR AF: 0.358

Gnomad AMI AF: 0.357

Gnomad AMR AF: 0.251

Gnomad ASJ AF: 0.358

Gnomad EAS AF: 0.0705

Gnomad SAS AF: 0.292

Gnomad FIN AF: 0.292

Gnomad MID AF: 0.219

Gnomad NFE AF: 0.367

Gnomad OTH AF: 0.390

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.331 AC: 5214 AN: 15766 Hom.: 1139 Cov.: 4 AF XY: 0.321 AC XY: 2259 AN XY: 7040

African (AFR) AF: 0.355 AC: 1300 AN: 3658

American (AMR) AF: 0.250 AC: 539 AN: 2160

Ashkenazi Jewish (ASJ) AF: 0.358 AC: 133 AN: 372

East Asian (EAS) AF: 0.0714 AC: 34 AN: 476

South Asian (SAS) AF: 0.285 AC: 37 AN: 130

European-Finnish (FIN) AF: 0.292 AC: 475 AN: 1624

Middle Eastern (MID) AF: 0.219 AC: 7 AN: 32

European-Non Finnish (NFE) AF: 0.367 AC: 2615 AN: 7124

Other (OTH) AF: 0.399 AC: 59 AN: 148

Alfa AF: 0.171 Hom.: 362

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	6.2
DANN	Benign	0.14
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs7106395; hg19: chr11-2049136;