ENST00000526674.2:n.180+4128T>C

Variant names:

• chr11-122418564-A-G
• rs559453
• ENST00000526674.2:n.180+4128T>C

Variant summary

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

The ENST00000526674.2(MIR100HG):​n.180+4128T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 151,606 control chromosomes in the GnomAD database, including 4,781 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 0.24 (4781 hom., cov: 31)
• Consequence: MIR100HG ENST00000526674.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.228
• Publications: 1 publications found

Genes affected

MIR100HG (HGNC:39522): (mir-100-let-7a-2-mir-125b-1 cluster host gene) This gene produces long non-coding RNAs that act as regulators of cell proliferation. Alternative promoter usage and splicing results in multiple transcript variants. Some transcript variants may promote growth, while others may act to negatively regulate cell division. [provided by RefSeq, May 2016]

ENSG00000301744 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.291 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000526674.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MIR100HG	NR_137179.1		n.180+4128T>C		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MIR100HG	ENST00000526674.2	TSL:5	n.180+4128T>C		intron	N/A
	MIR100HG	ENST00000533109.6	TSL:5	n.433+120915T>C		intron	N/A
	MIR100HG	ENST00000637700.1	TSL:5	n.116+35052T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.245 AC: 37111 AN: 151488 Hom.: 4771 Cov.: 31

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.151

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.264

Gnomad EAS AF: 0.303

Gnomad SAS AF: 0.303

Gnomad FIN AF: 0.224

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.214

Gnomad OTH AF: 0.225

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

GnomAD4 genome AF: 0.245 AC: 37143 AN: 151606 Hom.: 4781 Cov.: 31 AF XY: 0.245 AC XY: 18145 AN XY: 74040

African (AFR) AF: 0.285 AC: 11792 AN: 41334

American (AMR) AF: 0.257 AC: 3908 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.264 AC: 917 AN: 3468

East Asian (EAS) AF: 0.303 AC: 1549 AN: 5104

South Asian (SAS) AF: 0.302 AC: 1447 AN: 4790

European-Finnish (FIN) AF: 0.224 AC: 2340 AN: 10444

Middle Eastern (MID) AF: 0.156 AC: 46 AN: 294

European-Non Finnish (NFE) AF: 0.214 AC: 14525 AN: 67924

Other (OTH) AF: 0.229 AC: 481 AN: 2104

Alfa AF: 0.248 Hom.: 712

Bravo AF: 0.248

Asia WGS AF: 0.299 AC: 1037 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	2.5
DANN	Benign	0.92
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs559453; hg19: chr11-122289272;