rs9270467

Variant names:

• chr6-32591169-G-A
• rs9270467

Your query was ambiguous. Multiple possible variants found:

• chr6-32591169-G-A
• chr6-32591169-G-C
• chr6-32591169-G-T

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 0.56 (15691 hom., cov: 10)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.466
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.562 AC: 37884 AN: 67378 Hom.: 15669 Cov.: 10

Gnomad AFR AF: 0.569

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.605

Gnomad ASJ AF: 0.685

Gnomad EAS AF: 0.653

Gnomad SAS AF: 0.448

Gnomad FIN AF: 0.320

Gnomad MID AF: 0.838

Gnomad NFE AF: 0.576

Gnomad OTH AF: 0.567

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: 0.562 AC: 37932 AN: 67452 Hom.: 15691 Cov.: 10 AF XY: 0.545 AC XY: 17451 AN XY: 32042

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.570 AC: 9774 AN: 17152

American (AMR) AF: 0.606 AC: 3811 AN: 6288

Ashkenazi Jewish (ASJ) AF: 0.685 AC: 1163 AN: 1698

East Asian (EAS) AF: 0.655 AC: 1499 AN: 2290

South Asian (SAS) AF: 0.446 AC: 820 AN: 1838

European-Finnish (FIN) AF: 0.320 AC: 1355 AN: 4238

Middle Eastern (MID) AF: 0.836 AC: 122 AN: 146

European-Non Finnish (NFE) AF: 0.575 AC: 18699 AN: 32494

Other (OTH) AF: 0.559 AC: 480 AN: 858

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.660 Hom.: 1951

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.85
DANN	Benign	0.65
PhyloP100		-0.47

Splicing

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

Other links and lift over

dbSNP: rs9270467; hg19: chr6-32558946;