chr5-10981586-A-AACACACACAC

Position:

• chr5-10981586-A-AACACACACAC

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BS1 BS2

The NM_001332.4(CTNND2):​c.3417+186_3417+187insGTGTGTGTGT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.016 (40 hom., cov: 20)
• Consequence: CTNND2 NM_001332.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -1.53

Genes affected

CTNND2 (HGNC:2516): (catenin delta 2) This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

LOC105374654 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 5-10981586-A-AACACACACAC is Benign according to our data. Variant chr5-10981586-A-AACACACACAC is described in ClinVar as [Benign]. Clinvar id is 1288595.Status of the report is criteria_provided_single_submitter, 1 stars.
• BS1: Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0164 (2472/150468) while in subpopulation NFE AF= 0.0199 (1342/67504). AF 95% confidence interval is 0.019. There are 40 homozygotes in gnomad4. There are 1341 alleles in male gnomad4 subpopulation. Median coverage is 20. This position pass quality control queck.
• BS2: High AC in GnomAd4 at 2472 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CTNND2	NM_001332.4	c.3417+186_3417+187insGTGTGTGTGT		intron_variant		ENST00000304623.13
LOC105374654	XR_925791.3	n.536-2585_536-2576dup		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CTNND2	ENST00000304623.13	c.3417+186_3417+187insGTGTGTGTGT		intron_variant		1	NM_001332.4	P1

Frequencies

GnomAD3 genomes AF: 0.0164 AC: 2470 AN: 150358 Hom.: 40 Cov.: 20

Gnomad AFR AF: 0.00383

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00996

Gnomad ASJ AF: 0.00669

Gnomad EAS AF: 0.00624

Gnomad SAS AF: 0.0159

Gnomad FIN AF: 0.0642

Gnomad MID AF: 0.00955

Gnomad NFE AF: 0.0199

Gnomad OTH AF: 0.0156

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

GnomAD4 genome AF: 0.0164 AC: 2472 AN: 150468 Hom.: 40 Cov.: 20 AF XY: 0.0183 AC XY: 1341 AN XY: 73432

Gnomad4 AFR AF: 0.00384

Gnomad4 AMR AF: 0.00995

Gnomad4 ASJ AF: 0.00669

Gnomad4 EAS AF: 0.00625

Gnomad4 SAS AF: 0.0160

Gnomad4 FIN AF: 0.0642

Gnomad4 NFE AF: 0.0199

Gnomad4 OTH AF: 0.0169

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Feb 19, 2021

- -

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs112742699; hg19: chr5-10981698;