rs444697

Variant names:

• chr6-33607232-G-A
• rs444697

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.247 in 152,202 control chromosomes in the GnomAD database, including 5,006 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 0.25 (5006 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.38

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.488 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: 0.247 AC: 37540 AN: 152084 Hom.: 5004 Cov.: 33

Gnomad AFR AF: 0.232

Gnomad AMI AF: 0.204

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.211

Gnomad EAS AF: 0.504

Gnomad SAS AF: 0.419

Gnomad FIN AF: 0.179

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.240

Gnomad OTH AF: 0.259

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

GnomAD4 genome AF: 0.247 AC: 37551 AN: 152202 Hom.: 5006 Cov.: 33 AF XY: 0.248 AC XY: 18434 AN XY: 74420

Gnomad4 AFR AF: 0.232

Gnomad4 AMR AF: 0.233

Gnomad4 ASJ AF: 0.211

Gnomad4 EAS AF: 0.504

Gnomad4 SAS AF: 0.418

Gnomad4 FIN AF: 0.179

Gnomad4 NFE AF: 0.240

Gnomad4 OTH AF: 0.266

Alfa AF: 0.239 Hom.: 5571

Bravo AF: 0.244

Asia WGS AF: 0.467 AC: 1623 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	16
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs444697; hg19: chr6-33575009;