chr6-32607390-A-G

Variant names:

• chr6-32607390-A-G
• rs28383206

Variant summary

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

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 0.30 (5627 hom., cov: 9)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.131
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.334 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: 0.304 AC: 20148 AN: 66340 Hom.: 5628 Cov.: 9

Gnomad AFR AF: 0.254

Gnomad AMI AF: 0.589

Gnomad AMR AF: 0.269

Gnomad ASJ AF: 0.414

Gnomad EAS AF: 0.0796

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.281

Gnomad NFE AF: 0.339

Gnomad OTH AF: 0.342

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

GnomAD4 genome AF: 0.304 AC: 20143 AN: 66368 Hom.: 5627 Cov.: 9 AF XY: 0.289 AC XY: 8991 AN XY: 31102

African (AFR) AF: 0.254 AC: 3893 AN: 15332

American (AMR) AF: 0.268 AC: 1570 AN: 5850

Ashkenazi Jewish (ASJ) AF: 0.414 AC: 676 AN: 1634

East Asian (EAS) AF: 0.0797 AC: 163 AN: 2044

South Asian (SAS) AF: 0.213 AC: 401 AN: 1886

European-Finnish (FIN) AF: 0.307 AC: 1143 AN: 3718

Middle Eastern (MID) AF: 0.255 AC: 26 AN: 102

European-Non Finnish (NFE) AF: 0.339 AC: 11643 AN: 34362

Other (OTH) AF: 0.335 AC: 290 AN: 866

Alfa AF: 0.138 Hom.: 167

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.7
DANN	Benign	0.39
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs28383206; hg19: chr6-32575167;