rs9271192

Variant names:

• chr6-32610753-C-A
• rs9271192

Your query was ambiguous. Multiple possible variants found:

• chr6-32610753-C-A
• chr6-32610753-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.745 in 151,536 control chromosomes in the GnomAD database, including 42,335 homozygotes. 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 0.75 (42335 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0260
• Publications: 123 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.784 is higher than 0.05.

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: 0.745 AC: 112814 AN: 151416 Hom.: 42300 Cov.: 30

Gnomad AFR AF: 0.768

Gnomad AMI AF: 0.686

Gnomad AMR AF: 0.788

Gnomad ASJ AF: 0.787

Gnomad EAS AF: 0.804

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.658

Gnomad MID AF: 0.866

Gnomad NFE AF: 0.729

Gnomad OTH AF: 0.773

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

GnomAD4 genome AF: 0.745 AC: 112902 AN: 151536 Hom.: 42335 Cov.: 30 AF XY: 0.742 AC XY: 54964 AN XY: 74040

African (AFR) AF: 0.768 AC: 31713 AN: 41306

American (AMR) AF: 0.787 AC: 12017 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.787 AC: 2726 AN: 3464

East Asian (EAS) AF: 0.805 AC: 4142 AN: 5148

South Asian (SAS) AF: 0.728 AC: 3481 AN: 4784

European-Finnish (FIN) AF: 0.658 AC: 6909 AN: 10496

Middle Eastern (MID) AF: 0.856 AC: 250 AN: 292

European-Non Finnish (NFE) AF: 0.729 AC: 49419 AN: 67768

Other (OTH) AF: 0.769 AC: 1619 AN: 2106

Alfa AF: 0.735 Hom.: 72385

Bravo AF: 0.759

Asia WGS AF: 0.710 AC: 2473 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.1
DANN	Benign	0.71
PhyloP100		0.026

Splicing

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

Other links and lift over

dbSNP: rs9271192; hg19: chr6-32578530;