rs9395112

Variant names:

• chr6-45715069-A-G
• rs9395112

Your query was ambiguous. Multiple possible variants found:

• chr6-45715069-A-G
• chr6-45715069-A-T

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 0.15 in 152,178 control chromosomes in the GnomAD database, including 2,472 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 0.15 (2472 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.03
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.491 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: 0.150 AC: 22790 AN: 152060 Hom.: 2463 Cov.: 32

Gnomad AFR AF: 0.0352

Gnomad AMI AF: 0.202

Gnomad AMR AF: 0.253

Gnomad ASJ AF: 0.101

Gnomad EAS AF: 0.507

Gnomad SAS AF: 0.0915

Gnomad FIN AF: 0.239

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.161

Gnomad OTH AF: 0.169

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

GnomAD4 genome AF: 0.150 AC: 22821 AN: 152178 Hom.: 2472 Cov.: 32 AF XY: 0.158 AC XY: 11758 AN XY: 74376

African (AFR) AF: 0.0352 AC: 1463 AN: 41538

American (AMR) AF: 0.254 AC: 3889 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.101 AC: 352 AN: 3472

East Asian (EAS) AF: 0.508 AC: 2614 AN: 5150

South Asian (SAS) AF: 0.0924 AC: 446 AN: 4826

European-Finnish (FIN) AF: 0.239 AC: 2527 AN: 10592

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.161 AC: 10957 AN: 67994

Other (OTH) AF: 0.172 AC: 363 AN: 2112

Alfa AF: 0.145 Hom.: 1198

Bravo AF: 0.149

Asia WGS AF: 0.282 AC: 982 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.66
DANN	Benign	0.75
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs9395112; hg19: chr6-45682806;