rs2634205

Variant names:

• chr11-6353043-A-C
• rs2634205
• ENST00000655261.1:n.660-6412A>C

Your query was ambiguous. Multiple possible variants found:

• chr11-6353043-A-C
• chr11-6353043-A-G
• chr11-6353043-A-T

Variant summary

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

The ENST00000655261.1(ENSG00000282556):​n.660-6412A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.734 in 151,738 control chromosomes in the GnomAD database, including 41,071 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 0.73 (41071 hom., cov: 29)
• Consequence: ENSG00000282556 ENST00000655261.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45
• Publications: 2 publications found

Genes affected

ENSG00000282556 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.759 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000655261.1. 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
	ENSG00000282556	ENST00000655261.1		n.660-6412A>C		intron	N/A
	ENSG00000308330	ENST00000833324.1		n.137+37064T>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.734 AC: 111338 AN: 151620 Hom.: 41039 Cov.: 29

Gnomad AFR AF: 0.676

Gnomad AMI AF: 0.746

Gnomad AMR AF: 0.767

Gnomad ASJ AF: 0.810

Gnomad EAS AF: 0.750

Gnomad SAS AF: 0.756

Gnomad FIN AF: 0.676

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.764

Gnomad OTH AF: 0.738

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

GnomAD4 genome AF: 0.734 AC: 111415 AN: 151738 Hom.: 41071 Cov.: 29 AF XY: 0.731 AC XY: 54188 AN XY: 74110

African (AFR) AF: 0.675 AC: 27903 AN: 41316

American (AMR) AF: 0.767 AC: 11701 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.810 AC: 2810 AN: 3468

East Asian (EAS) AF: 0.750 AC: 3865 AN: 5154

South Asian (SAS) AF: 0.757 AC: 3638 AN: 4804

European-Finnish (FIN) AF: 0.676 AC: 7099 AN: 10506

Middle Eastern (MID) AF: 0.847 AC: 249 AN: 294

European-Non Finnish (NFE) AF: 0.764 AC: 51910 AN: 67932

Other (OTH) AF: 0.741 AC: 1561 AN: 2108

Alfa AF: 0.755 Hom.: 18413

Bravo AF: 0.739

Asia WGS AF: 0.758 AC: 2635 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.56
DANN	Benign	0.81
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs2634205; hg19: chr11-6374273;