rs2785201

Variant names:

• chr11-35067291-G-C
• rs2785201
• ENST00000747995.1:n.136+4452G>C

Your query was ambiguous. Multiple possible variants found:

• chr11-35067291-G-C
• chr11-35067291-G-T

Variant summary

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

The ENST00000747995.1(ENSG00000297460):​n.136+4452G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.529 in 151,910 control chromosomes in the GnomAD database, including 21,905 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 0.53 (21905 hom., cov: 31)
• Consequence: ENSG00000297460 ENST00000747995.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.269
• Publications: 7 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=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.736 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+4452G>C		intron	N/A
	ENSG00000297460	ENST00000747996.1		n.84+17166G>C		intron	N/A
	ENSG00000297460	ENST00000747997.1		n.83+17166G>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.529 AC: 80340 AN: 151792 Hom.: 21899 Cov.: 31

Gnomad AFR AF: 0.397

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.608

Gnomad ASJ AF: 0.613

Gnomad EAS AF: 0.756

Gnomad SAS AF: 0.689

Gnomad FIN AF: 0.522

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.558

Gnomad OTH AF: 0.558

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

GnomAD4 genome AF: 0.529 AC: 80364 AN: 151910 Hom.: 21905 Cov.: 31 AF XY: 0.534 AC XY: 39624 AN XY: 74254

African (AFR) AF: 0.397 AC: 16430 AN: 41412

American (AMR) AF: 0.609 AC: 9288 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.613 AC: 2127 AN: 3472

East Asian (EAS) AF: 0.755 AC: 3901 AN: 5164

South Asian (SAS) AF: 0.688 AC: 3315 AN: 4816

European-Finnish (FIN) AF: 0.522 AC: 5507 AN: 10540

Middle Eastern (MID) AF: 0.612 AC: 180 AN: 294

European-Non Finnish (NFE) AF: 0.558 AC: 37916 AN: 67940

Other (OTH) AF: 0.561 AC: 1182 AN: 2106

Alfa AF: 0.534 Hom.: 2706

Bravo AF: 0.526

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.8
DANN	Benign	0.62
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs2785201; hg19: chr11-35088838;