rs4811144

Variant names:

• chr20-37813412-C-A
• rs4811144
• NM_030877.5:c.1213+10364C>A

Your query was ambiguous. Multiple possible variants found:

• chr20-37813412-C-A
• chr20-37813412-C-G
• chr20-37813412-C-T

Variant summary

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

The NM_030877.5(CTNNBL1):​c.1213+10364C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.812 in 152,186 control chromosomes in the GnomAD database, including 50,250 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 0.81 (50250 hom., cov: 32)
• Consequence: CTNNBL1 NM_030877.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.328
• Publications: 4 publications found

Genes affected

CTNNBL1 (HGNC:15879): (catenin beta like 1) The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]

CTNNBL1 Gene-Disease associations (from GenCC):

• common variable immunodeficiency

  Inheritance: AR Classification: LIMITED Submitted by: ClinGen
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

  Inheritance: Unknown Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.859 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CTNNBL1	NM_030877.5	c.1213+10364C>A		intron_variant	Intron 11 of 15	ENST00000361383.11	NP_110517.2
CTNNBL1	NM_001281495.2	c.1132+10364C>A		intron_variant	Intron 12 of 16		NP_001268424.1
CTNNBL1	XM_024451947.2	c.1132+10364C>A		intron_variant	Intron 12 of 16		XP_024307715.1
CTNNBL1	XM_011528917.3	c.883+10364C>A		intron_variant	Intron 9 of 13		XP_011527219.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CTNNBL1	ENST00000361383.11	c.1213+10364C>A		intron_variant	Intron 11 of 15	1	NM_030877.5	ENSP00000355050.6
CTNNBL1	ENST00000628103.2	c.1132+10364C>A		intron_variant	Intron 12 of 16	2		ENSP00000487198.1

Frequencies

GnomAD3 genomes AF: 0.812 AC: 123493 AN: 152066 Hom.: 50197 Cov.: 32

Gnomad AFR AF: 0.813

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.871

Gnomad ASJ AF: 0.882

Gnomad EAS AF: 0.871

Gnomad SAS AF: 0.864

Gnomad FIN AF: 0.736

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.796

Gnomad OTH AF: 0.845

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

GnomAD4 genome AF: 0.812 AC: 123604 AN: 152186 Hom.: 50250 Cov.: 32 AF XY: 0.812 AC XY: 60380 AN XY: 74396

African (AFR) AF: 0.813 AC: 33760 AN: 41538

American (AMR) AF: 0.872 AC: 13327 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.882 AC: 3062 AN: 3472

East Asian (EAS) AF: 0.871 AC: 4505 AN: 5172

South Asian (SAS) AF: 0.862 AC: 4155 AN: 4818

European-Finnish (FIN) AF: 0.736 AC: 7786 AN: 10580

Middle Eastern (MID) AF: 0.888 AC: 261 AN: 294

European-Non Finnish (NFE) AF: 0.796 AC: 54153 AN: 67996

Other (OTH) AF: 0.847 AC: 1788 AN: 2112

Alfa AF: 0.801 Hom.: 10797

Bravo AF: 0.822

Asia WGS AF: 0.876 AC: 3043 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.32
DANN	Benign	0.28
PhyloP100		-0.33
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: rs4811144; hg19: chr20-36441814;