rs2785194

Variant names:

• chr11-35073707-T-C
• rs2785194
• ENST00000747995.1:n.136+10868T>C

Variant summary

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

The ENST00000747995.1(ENSG00000297460):​n.136+10868T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.511 in 152,094 control chromosomes in the GnomAD database, including 20,788 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 0.51 (20788 hom., cov: 33)
• Consequence: ENSG00000297460 ENST00000747995.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.577
• Publications: 3 publications found

Genes affected

ENSG00000297460 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.734 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000747995.1. 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
	ENSG00000297460	ENST00000747995.1		n.136+10868T>C		intron	N/A
	ENSG00000297460	ENST00000747996.1		n.85-14731T>C		intron	N/A
	ENSG00000297460	ENST00000747997.1		n.84-14731T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.511 AC: 77700 AN: 151976 Hom.: 20783 Cov.: 33

Gnomad AFR AF: 0.354

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.602

Gnomad ASJ AF: 0.609

Gnomad EAS AF: 0.754

Gnomad SAS AF: 0.690

Gnomad FIN AF: 0.515

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.548

Gnomad OTH AF: 0.542

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

GnomAD4 genome AF: 0.511 AC: 77717 AN: 152094 Hom.: 20788 Cov.: 33 AF XY: 0.516 AC XY: 38369 AN XY: 74322

African (AFR) AF: 0.353 AC: 14663 AN: 41502

American (AMR) AF: 0.602 AC: 9205 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.609 AC: 2113 AN: 3468

East Asian (EAS) AF: 0.753 AC: 3903 AN: 5180

South Asian (SAS) AF: 0.689 AC: 3326 AN: 4830

European-Finnish (FIN) AF: 0.515 AC: 5419 AN: 10530

Middle Eastern (MID) AF: 0.596 AC: 174 AN: 292

European-Non Finnish (NFE) AF: 0.548 AC: 37244 AN: 67982

Other (OTH) AF: 0.545 AC: 1152 AN: 2114

Alfa AF: 0.520 Hom.: 2621

Bravo AF: 0.508

Asia WGS AF: 0.686 AC: 2385 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	0.72
DANN	Benign	0.87
PhyloP100		-0.58

Splicing

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

Other links and lift over

dbSNP: rs2785194; hg19: chr11-35095254;