rs11794651

Variant names:

• chr9-38738492-C-G
• rs11794651
• ENST00000835853.1:n.185+10700C>G

Your query was ambiguous. Multiple possible variants found:

• chr9-38738492-C-G
• chr9-38738492-C-T

Variant summary

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

The ENST00000835853.1(ENSG00000308694):​n.185+10700C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.121 in 152,216 control chromosomes in the GnomAD database, including 1,186 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 (1186 hom., cov: 33)
• Consequence: ENSG00000308694 ENST00000835853.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.228
• Publications: 5 publications found

Genes affected

ENSG00000308694 (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 (AFR) allele frequency at 95% confidence interval = 0.171 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000835853.1. 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
	ENSG00000308694	ENST00000835853.1		n.185+10700C>G		intron	N/A
	ENSG00000308694	ENST00000835854.1		n.376+284C>G		intron	N/A
	ENSG00000308694	ENST00000835855.1		n.72+10700C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.121 AC: 18339 AN: 152098 Hom.: 1179 Cov.: 33

Gnomad AFR AF: 0.174

Gnomad AMI AF: 0.164

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.0930

Gnomad EAS AF: 0.0377

Gnomad SAS AF: 0.115

Gnomad FIN AF: 0.0999

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0958

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.121 AC: 18382 AN: 152216 Hom.: 1186 Cov.: 33 AF XY: 0.121 AC XY: 9000 AN XY: 74402

African (AFR) AF: 0.174 AC: 7236 AN: 41514

American (AMR) AF: 0.137 AC: 2101 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0930 AC: 323 AN: 3472

East Asian (EAS) AF: 0.0376 AC: 195 AN: 5188

South Asian (SAS) AF: 0.114 AC: 550 AN: 4826

European-Finnish (FIN) AF: 0.0999 AC: 1058 AN: 10592

Middle Eastern (MID) AF: 0.0816 AC: 24 AN: 294

European-Non Finnish (NFE) AF: 0.0958 AC: 6514 AN: 68012

Other (OTH) AF: 0.110 AC: 232 AN: 2112

Alfa AF: 0.0364 Hom.: 31

Bravo AF: 0.124

Asia WGS AF: 0.0810 AC: 283 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.9
DANN	Benign	0.64
PhyloP100		0.23

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: rs11794651;

hg19: chr9-38738489;