rs2279096

Variant names:

• chr18-57490726-G-A
• rs2279096
• NM_004852.3:c.*14003G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-57490726-G-A
• chr18-57490726-G-C
• chr18-57490726-G-T

Variant summary

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

The NM_004852.3(ONECUT2):​c.*14003G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.522 in 151,916 control chromosomes in the GnomAD database, including 23,916 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 0.52 (23913 hom., cov: 31)
  • Exomes 𝑓: 0.59 (3 hom.)
• Consequence: ONECUT2 NM_004852.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.666
• Publications: 7 publications found

Genes affected

ONECUT2 (HGNC:8139): (one cut homeobox 2) This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]

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 (NFE) allele frequency at 95% confidence interval = 0.683 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_004852.3. 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
	ONECUT2	NM_004852.3	MANE Select	c.*14003G>A		3_prime_UTR	Exon 2 of 2	NP_004843.2	O95948

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ONECUT2	ENST00000491143.3	TSL:1 MANE Select	c.*14003G>A		3_prime_UTR	Exon 2 of 2	ENSP00000419185.2	O95948

Frequencies

GnomAD3 genomes AF: 0.523 AC: 79343 AN: 151776 Hom.: 23924 Cov.: 31

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.663

Gnomad AMR AF: 0.494

Gnomad ASJ AF: 0.708

Gnomad EAS AF: 0.520

Gnomad SAS AF: 0.594

Gnomad FIN AF: 0.609

Gnomad MID AF: 0.621

Gnomad NFE AF: 0.688

Gnomad OTH AF: 0.535

GnomAD4 exome AF: 0.591 AC: 13 AN: 22 Hom.: 3 Cov.: 0 AF XY: 0.500 AC XY: 7 AN XY: 14

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AF: 0.650 AC: 13 AN: 20

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AC: 0 AN: 0

Other (OTH) AF: 0.00 AC: 0 AN: 2

GnomAD4 genome AF: 0.522 AC: 79324 AN: 151894 Hom.: 23913 Cov.: 31 AF XY: 0.517 AC XY: 38398 AN XY: 74242

African (AFR) AF: 0.211 AC: 8727 AN: 41396

American (AMR) AF: 0.493 AC: 7520 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.708 AC: 2456 AN: 3470

East Asian (EAS) AF: 0.519 AC: 2675 AN: 5152

South Asian (SAS) AF: 0.592 AC: 2849 AN: 4810

European-Finnish (FIN) AF: 0.609 AC: 6420 AN: 10544

Middle Eastern (MID) AF: 0.606 AC: 177 AN: 292

European-Non Finnish (NFE) AF: 0.688 AC: 46763 AN: 67964

Other (OTH) AF: 0.537 AC: 1132 AN: 2108

Alfa AF: 0.647 Hom.: 51946

Bravo AF: 0.496

Asia WGS AF: 0.553 AC: 1924 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.21
DANN	Benign	0.67
PhyloP100		-0.67
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs2279096; hg19: chr18-55157958;