rs766716

Variant names:

• chr15-96145141-T-C
• rs766716
• ENST00000560800.5:n.264-13079A>G

Your query was ambiguous. Multiple possible variants found:

• chr15-96145141-T-C
• chr15-96145141-T-G

Variant summary

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

The ENST00000560800.5(NR2F2-AS1):​n.264-13079A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 152,096 control chromosomes in the GnomAD database, including 2,949 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 0.19 (2949 hom., cov: 32)
• Consequence: NR2F2-AS1 ENST00000560800.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.59
• Publications: 3 publications found

Genes affected

NR2F2-AS1 (HGNC:44222): (NR2F2 antisense RNA 1)

ENSG00000275443 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.238 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000560800.5. 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
	NR2F2-AS1	NR_125738.1		n.361-13079A>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NR2F2-AS1	ENST00000560800.5	TSL:4	n.264-13079A>G		intron	N/A
	NR2F2-AS1	ENST00000616608.2	TSL:5	n.444-19026A>G		intron	N/A
	ENSG00000275443	ENST00000619812.1	TSL:5	n.304-82132T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.192 AC: 29181 AN: 151978 Hom.: 2947 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.159

Gnomad AMR AF: 0.182

Gnomad ASJ AF: 0.279

Gnomad EAS AF: 0.250

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.225

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.213

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

GnomAD4 genome AF: 0.192 AC: 29182 AN: 152096 Hom.: 2949 Cov.: 32 AF XY: 0.192 AC XY: 14287 AN XY: 74328

African (AFR) AF: 0.144 AC: 5990 AN: 41504

American (AMR) AF: 0.182 AC: 2781 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.279 AC: 967 AN: 3466

East Asian (EAS) AF: 0.249 AC: 1291 AN: 5180

South Asian (SAS) AF: 0.166 AC: 801 AN: 4814

European-Finnish (FIN) AF: 0.225 AC: 2373 AN: 10556

Middle Eastern (MID) AF: 0.255 AC: 75 AN: 294

European-Non Finnish (NFE) AF: 0.211 AC: 14310 AN: 67980

Other (OTH) AF: 0.213 AC: 450 AN: 2112

Alfa AF: 0.205 Hom.: 7265

Bravo AF: 0.186

Asia WGS AF: 0.208 AC: 722 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.34
DANN	Benign	0.26
PhyloP100		-1.6

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs766716;

hg19: chr15-96688370;