chr6-32591169-G-A

Variant names:

• chr6-32591169-G-A
• rs9270467

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).

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: 0.562 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 v4.3

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;