2-28391866-CTTTTTT-CTTTTTTTTTTTTTT

Variant names:

• chr2-28391866-C-CTTTTTTTT
• rs4042624
• ENST00000752769.1:n.741_748dupTTTTTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000752769.1(ENSG00000298060):​n.741_748dupTTTTTTTT variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.00057 (0 hom., cov: 0)
• Consequence: ENSG00000298060 ENST00000752769.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.161
• Publications: 1 publications found

Genes affected

ENSG00000298060 (HGNC:):

FOSL2-AS1 (HGNC:55784): (FOSL2 antisense RNA 1)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000752769.1. 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
	FOSL2-AS1	NR_103831.1		n.125+2674_125+2681dupAAAAAAAA		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000298060	ENST00000752769.1		n.741_748dupTTTTTTTT		non_coding_transcript_exon	Exon 2 of 2
	ENSG00000298060	ENST00000752770.1		n.361_368dupTTTTTTTT		non_coding_transcript_exon	Exon 2 of 2
	FOSL2-AS1	ENST00000427929.5	TSL:2	n.125+2674_125+2681dupAAAAAAAA		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.000573 AC: 72 AN: 125636 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000923

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000635

Gnomad ASJ AF: 0.00154

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00134

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000831

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000573 AC: 72 AN: 125628 Hom.: 0 Cov.: 0 AF XY: 0.000557 AC XY: 33 AN XY: 59224

African (AFR) AF: 0.0000922 AC: 3 AN: 32552

American (AMR) AF: 0.000634 AC: 8 AN: 12612

Ashkenazi Jewish (ASJ) AF: 0.00154 AC: 5 AN: 3242

East Asian (EAS) AF: 0.00 AC: 0 AN: 4488

South Asian (SAS) AF: 0.00135 AC: 5 AN: 3710

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 4880

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 208

European-Non Finnish (NFE) AF: 0.000831 AC: 51 AN: 61374

Other (OTH) AF: 0.00 AC: 0 AN: 1712

Alfa AF: 0.000577 Hom.: 206

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs4042624; hg19: chr2-28614733;