rs7919083

chr10-66840740-C-Achr10-66840740-C-T

Variant summary

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

The NM_013266.4(CTNNA3):c.1048-65216G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.618 in 151,810 control chromosomes in the GnomAD database, including 29,657 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 0.62 (29657 hom., cov: 31)
• Consequence: CTNNA3 NM_013266.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29

Genes affected

CTNNA3 (HGNC:2511): (catenin alpha 3) This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.699 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CTNNA3	NM_013266.4	c.1048-65216G>T		intron_variant		ENST00000433211.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CTNNA3	ENST00000433211.7	c.1048-65216G>T		intron_variant		1	NM_013266.4	P1

Frequencies

GnomAD3 genomes AF: 0.618 AC: 93744 AN: 151692 Hom.: 29619 Cov.: 31

Gnomad AFR AF: 0.706

Gnomad AMI AF: 0.579

Gnomad AMR AF: 0.526

Gnomad ASJ AF: 0.523

Gnomad EAS AF: 0.292

Gnomad SAS AF: 0.550

Gnomad FIN AF: 0.621

Gnomad MID AF: 0.529

Gnomad NFE AF: 0.621

Gnomad OTH AF: 0.581

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

GnomAD4 genome AF: 0.618 AC: 93843 AN: 151810 Hom.: 29657 Cov.: 31 AF XY: 0.614 AC XY: 45566 AN XY: 74160

Gnomad4 AFR AF: 0.706

Gnomad4 AMR AF: 0.526

Gnomad4 ASJ AF: 0.523

Gnomad4 EAS AF: 0.292

Gnomad4 SAS AF: 0.551

Gnomad4 FIN AF: 0.621

Gnomad4 NFE AF: 0.621

Gnomad4 OTH AF: 0.583

Alfa AF: 0.604 Hom.: 55898

Bravo AF: 0.610

Asia WGS AF: 0.483 AC: 1673 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	0.30
Dann	Benign	0.26

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

Publications

LitVar

Other links and lift over

dbSNP: rs7919083; hg19: chr10-68600498;