rs512932

Variant names:

• chr11-122102833-A-G
• rs512932
• ENST00000534782.4:n.388-11114T>C

Variant summary

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

The ENST00000534782.4(MIR100HG):​n.388-11114T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.184 in 151,612 control chromosomes in the GnomAD database, including 2,696 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 0.18 (2696 hom., cov: 31)
• Consequence: MIR100HG ENST00000534782.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.22
• Publications: 7 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]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.257 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000534782.4. 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
	MIR100HG	NR_024430.2		n.492-11093T>C		intron	N/A
	MIR100HG	NR_137179.1		n.446-11093T>C		intron	N/A
	MIR100HG	NR_137180.1		n.504-11093T>C		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MIR100HG	ENST00000534782.4	TSL:1	n.388-11114T>C		intron	N/A
	MIR100HG	ENST00000532315.1	TSL:4	n.872+2238T>C		intron	N/A
	MIR100HG	ENST00000534195.1	TSL:4	n.99+2238T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.184 AC: 27871 AN: 151494 Hom.: 2699 Cov.: 31

Gnomad AFR AF: 0.130

Gnomad AMI AF: 0.285

Gnomad AMR AF: 0.160

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.261

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.208

Gnomad OTH AF: 0.172

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

GnomAD4 genome AF: 0.184 AC: 27876 AN: 151612 Hom.: 2696 Cov.: 31 AF XY: 0.185 AC XY: 13719 AN XY: 74066

African (AFR) AF: 0.130 AC: 5362 AN: 41306

American (AMR) AF: 0.160 AC: 2433 AN: 15214

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 605 AN: 3470

East Asian (EAS) AF: 0.260 AC: 1331 AN: 5122

South Asian (SAS) AF: 0.269 AC: 1288 AN: 4786

European-Finnish (FIN) AF: 0.197 AC: 2066 AN: 10490

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.208 AC: 14109 AN: 67914

Other (OTH) AF: 0.173 AC: 365 AN: 2104

Alfa AF: 0.199 Hom.: 5295

Bravo AF: 0.178

Asia WGS AF: 0.269 AC: 939 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	5.9
DANN	Benign	0.63
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs512932; hg19: chr11-121973541;