chr6-32735244-G-A

Variant names:

• chr6-32735244-G-A
• rs9276298

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 0.8 in 152,130 control chromosomes in the GnomAD database, including 48,951 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 0.80 (48951 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.894 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: 0.800 AC: 121682 AN: 152012 Hom.: 48914 Cov.: 32

Gnomad AFR AF: 0.822

Gnomad AMI AF: 0.816

Gnomad AMR AF: 0.825

Gnomad ASJ AF: 0.842

Gnomad EAS AF: 0.915

Gnomad SAS AF: 0.917

Gnomad FIN AF: 0.770

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.766

Gnomad OTH AF: 0.844

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

GnomAD4 genome AF: 0.800 AC: 121773 AN: 152130 Hom.: 48951 Cov.: 32 AF XY: 0.803 AC XY: 59705 AN XY: 74366

African (AFR) AF: 0.822 AC: 34091 AN: 41488

American (AMR) AF: 0.825 AC: 12608 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.842 AC: 2924 AN: 3472

East Asian (EAS) AF: 0.915 AC: 4740 AN: 5182

South Asian (SAS) AF: 0.917 AC: 4425 AN: 4826

European-Finnish (FIN) AF: 0.770 AC: 8135 AN: 10570

Middle Eastern (MID) AF: 0.854 AC: 251 AN: 294

European-Non Finnish (NFE) AF: 0.766 AC: 52066 AN: 67990

Other (OTH) AF: 0.847 AC: 1790 AN: 2114

Alfa AF: 0.788 Hom.: 22865

Bravo AF: 0.803

Asia WGS AF: 0.907 AC: 3152 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.8
DANN	Benign	0.62
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs9276298; hg19: chr6-32703021;