rs9445711

Variant names:

• chr6-66415746-A-C
• rs9445711

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 0.119 in 151,864 control chromosomes in the GnomAD database, including 1,210 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 0.12 (1210 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.158
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.15 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: 0.119 AC: 18093 AN: 151746 Hom.: 1210 Cov.: 32

Gnomad AFR AF: 0.153

Gnomad AMI AF: 0.0976

Gnomad AMR AF: 0.0639

Gnomad ASJ AF: 0.113

Gnomad EAS AF: 0.0109

Gnomad SAS AF: 0.0418

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.0892

Gnomad NFE AF: 0.121

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.119 AC: 18106 AN: 151864 Hom.: 1210 Cov.: 32 AF XY: 0.118 AC XY: 8796 AN XY: 74244

African (AFR) AF: 0.153 AC: 6363 AN: 41456

American (AMR) AF: 0.0638 AC: 969 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.113 AC: 391 AN: 3460

East Asian (EAS) AF: 0.0109 AC: 56 AN: 5142

South Asian (SAS) AF: 0.0423 AC: 204 AN: 4828

European-Finnish (FIN) AF: 0.146 AC: 1552 AN: 10596

Middle Eastern (MID) AF: 0.0822 AC: 24 AN: 292

European-Non Finnish (NFE) AF: 0.121 AC: 8231 AN: 67872

Other (OTH) AF: 0.108 AC: 227 AN: 2106

Alfa AF: 0.125 Hom.: 166

Bravo AF: 0.115

Asia WGS AF: 0.0410 AC: 143 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.2
DANN	Benign	0.45
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs9445711; hg19: chr6-67125639;