rs201124

Positions:

• chr10-11011086-A-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001326325.2(CELF2):​c.146+91087A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.241 in 152,120 control chromosomes in the GnomAD database, including 9,546 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 (9546 hom., cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: CELF2 NM_001326325.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.747

Genes affected

CELF2 (HGNC:2550): (CUGBP Elav-like family member 2) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ENSG00000228027 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.651 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CELF2	NM_001326325.2	c.146+91087A>C		intron_variant			NP_001313254.1
CELF2	NM_001326336.2	c.53+5646A>C		intron_variant			NP_001313265.1
CELF2	NM_001326327.2	c.89+91087A>C		intron_variant			NP_001313256.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CELF2	ENST00000416382.6	c.53+5646A>C		intron_variant		1		ENSP00000406451.2
CELF2	ENST00000637215.1	c.89+91087A>C		intron_variant		5		ENSP00000490185.1
CELF2	ENST00000636488.1	c.89+91087A>C		intron_variant		5		ENSP00000489955.1

Frequencies

GnomAD3 genomes AF: 0.241 AC: 36615 AN: 152002 Hom.: 9512 Cov.: 32

Gnomad AFR AF: 0.658

Gnomad AMI AF: 0.0888

Gnomad AMR AF: 0.136

Gnomad ASJ AF: 0.129

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.0513

Gnomad FIN AF: 0.0253

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.0856

Gnomad OTH AF: 0.205

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 2 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome AF: 0.241 AC: 36692 AN: 152120 Hom.: 9546 Cov.: 32 AF XY: 0.233 AC XY: 17293 AN XY: 74376

Gnomad4 AFR AF: 0.658

Gnomad4 AMR AF: 0.136

Gnomad4 ASJ AF: 0.129

Gnomad4 EAS AF: 0.00174

Gnomad4 SAS AF: 0.0507

Gnomad4 FIN AF: 0.0253

Gnomad4 NFE AF: 0.0856

Gnomad4 OTH AF: 0.202

Alfa AF: 0.116 Hom.: 1326

Bravo AF: 0.269

Asia WGS AF: 0.0610 AC: 213 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	9.3
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs201124; hg19: chr10-11053049;