6-32697951-A-G

Variant names:

• chr6-32697951-A-G
• rs9275312

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 0.164 in 151,766 control chromosomes in the GnomAD database, including 2,316 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 0.16 (2316 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.619
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.275 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: 0.164 AC: 24831 AN: 151648 Hom.: 2308 Cov.: 31

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.180

Gnomad AMR AF: 0.281

Gnomad ASJ AF: 0.191

Gnomad EAS AF: 0.252

Gnomad SAS AF: 0.122

Gnomad FIN AF: 0.258

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.134

Gnomad OTH AF: 0.152

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

GnomAD4 genome AF: 0.164 AC: 24864 AN: 151766 Hom.: 2316 Cov.: 31 AF XY: 0.172 AC XY: 12737 AN XY: 74132

African (AFR) AF: 0.137 AC: 5676 AN: 41382

American (AMR) AF: 0.282 AC: 4299 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.191 AC: 664 AN: 3468

East Asian (EAS) AF: 0.253 AC: 1297 AN: 5130

South Asian (SAS) AF: 0.122 AC: 577 AN: 4744

European-Finnish (FIN) AF: 0.258 AC: 2728 AN: 10556

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.134 AC: 9101 AN: 67952

Other (OTH) AF: 0.151 AC: 317 AN: 2096

Alfa AF: 0.146 Hom.: 5222

Bravo AF: 0.170

Asia WGS AF: 0.174 AC: 608 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	3.2
DANN	Benign	0.63
PhyloP100		-0.62

Splicing

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

Other links and lift over

dbSNP: rs9275312; hg19: chr6-32665728;