rs9366868

Variant names:

• chr6-11703267-G-A
• rs9366868
• ENST00000772806.1:n.333+7786C>T

Your query was ambiguous. Multiple possible variants found:

• chr6-11703267-G-A
• chr6-11703267-G-C
• chr6-11703267-G-T

Variant summary

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

The ENST00000772806.1(ENSG00000300580):​n.333+7786C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.309 in 152,188 control chromosomes in the GnomAD database, including 8,240 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 0.31 (8240 hom., cov: 33)
• Consequence: ENSG00000300580 ENST00000772806.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.830
• Publications: 2 publications found

Genes affected

ENSG00000300580 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.398 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000772806.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000300580	ENST00000772806.1		n.333+7786C>T		intron	N/A
	ENSG00000271897	ENST00000772883.1		n.349-6816G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.309 AC: 46954 AN: 152070 Hom.: 8241 Cov.: 33

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.466

Gnomad AMR AF: 0.273

Gnomad ASJ AF: 0.436

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.303

Gnomad FIN AF: 0.370

Gnomad MID AF: 0.228

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.305

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

GnomAD4 genome AF: 0.309 AC: 46953 AN: 152188 Hom.: 8240 Cov.: 33 AF XY: 0.306 AC XY: 22770 AN XY: 74400

African (AFR) AF: 0.142 AC: 5888 AN: 41538

American (AMR) AF: 0.273 AC: 4169 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.436 AC: 1512 AN: 3470

East Asian (EAS) AF: 0.296 AC: 1538 AN: 5190

South Asian (SAS) AF: 0.303 AC: 1460 AN: 4816

European-Finnish (FIN) AF: 0.370 AC: 3917 AN: 10582

Middle Eastern (MID) AF: 0.224 AC: 66 AN: 294

European-Non Finnish (NFE) AF: 0.402 AC: 27330 AN: 67982

Other (OTH) AF: 0.307 AC: 648 AN: 2114

Alfa AF: 0.251 Hom.: 801

Bravo AF: 0.294

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.33
DANN	Benign	0.59
PhyloP100		-0.83

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs9366868;

hg19: chr6-11703500;