chr6-32626411-A-G

Variant names:

• chr6-32626411-A-G
• rs9271768

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 0.327 in 151,670 control chromosomes in the GnomAD database, including 8,384 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 0.33 (8384 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0320
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.343 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.327 AC: 49624 AN: 151554 Hom.: 8378 Cov.: 29

Gnomad AFR AF: 0.308

Gnomad AMI AF: 0.228

Gnomad AMR AF: 0.338

Gnomad ASJ AF: 0.406

Gnomad EAS AF: 0.265

Gnomad SAS AF: 0.297

Gnomad FIN AF: 0.284

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.346

Gnomad OTH AF: 0.356

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

GnomAD4 genome AF: 0.327 AC: 49654 AN: 151670 Hom.: 8384 Cov.: 29 AF XY: 0.325 AC XY: 24050 AN XY: 74104

African (AFR) AF: 0.308 AC: 12743 AN: 41352

American (AMR) AF: 0.338 AC: 5148 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.406 AC: 1406 AN: 3466

East Asian (EAS) AF: 0.264 AC: 1355 AN: 5124

South Asian (SAS) AF: 0.297 AC: 1428 AN: 4802

European-Finnish (FIN) AF: 0.284 AC: 2980 AN: 10502

Middle Eastern (MID) AF: 0.469 AC: 138 AN: 294

European-Non Finnish (NFE) AF: 0.346 AC: 23505 AN: 67868

Other (OTH) AF: 0.353 AC: 744 AN: 2106

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	6.7
DANN	Benign	0.47
PhyloP100		0.032

Splicing

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

Other links and lift over

dbSNP: rs9271768; hg19: chr6-32594188;