rs9270467

chr6-32591169-G-Achr6-32591169-G-Cchr6-32591169-G-T

Variant summary

Our verdict is Likely benign. Variant got -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

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.00 AC: 37884 AN: 67378 Hom.: 15669 Cov.: 10 FAILED QC

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

Gnomad4 AFR AF: 0.570

Gnomad4 AMR AF: 0.606

Gnomad4 ASJ AF: 0.685

Gnomad4 EAS AF: 0.655

Gnomad4 SAS AF: 0.446

Gnomad4 FIN AF: 0.320

Gnomad4 NFE AF: 0.575

Gnomad4 OTH AF: 0.559

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9270467; hg19: chr6-32558946;