6-32566734-C-G

Variant names:

• chr6-32566734-C-G
• rs11758998

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 0.061 (129 hom., cov: 18)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.136
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).

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: 0.0609 AC: 7578 AN: 124500 Hom.: 129 Cov.: 18

Gnomad AFR AF: 0.0914

Gnomad AMI AF: 0.0496

Gnomad AMR AF: 0.0586

Gnomad ASJ AF: 0.0565

Gnomad EAS AF: 0.0382

Gnomad SAS AF: 0.0294

Gnomad FIN AF: 0.0414

Gnomad MID AF: 0.0240

Gnomad NFE AF: 0.0498

Gnomad OTH AF: 0.0647

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: 0.0609 AC: 7590 AN: 124600 Hom.: 129 Cov.: 18 AF XY: 0.0598 AC XY: 3627 AN XY: 60638

African (AFR) AF: 0.0915 AC: 3169 AN: 34652

American (AMR) AF: 0.0585 AC: 634 AN: 10844

Ashkenazi Jewish (ASJ) AF: 0.0565 AC: 163 AN: 2884

East Asian (EAS) AF: 0.0383 AC: 140 AN: 3660

South Asian (SAS) AF: 0.0296 AC: 112 AN: 3778

European-Finnish (FIN) AF: 0.0414 AC: 352 AN: 8498

Middle Eastern (MID) AF: 0.0299 AC: 7 AN: 234

European-Non Finnish (NFE) AF: 0.0498 AC: 2868 AN: 57596

Other (OTH) AF: 0.0632 AC: 108 AN: 1708

Alfa AF: 0.00571 Hom.: 1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.8
DANN	Benign	0.59
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs11758998; hg19: chr6-32534511;