2-205128240-C-T

Position:

• chr2-205128240-C-T

Variant summary

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

The NM_001302769.2(PARD3B):​c.1434+2503C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.273 in 152,072 control chromosomes in the GnomAD database, including 6,536 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 0.27 (6536 hom., cov: 32)
• Consequence: PARD3B NM_001302769.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.556

Genes affected

PARD3B (HGNC:14446): (par-3 family cell polarity regulator beta) Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.431 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PARD3B	NM_001302769.2	c.1434+2503C>T		intron_variant		ENST00000406610.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PARD3B	ENST00000406610.7	c.1434+2503C>T		intron_variant		1	NM_001302769.2	P1
PARD3B	ENST00000349953.7	c.1434+2503C>T		intron_variant		1
PARD3B	ENST00000351153.5	c.1434+2503C>T		intron_variant		1
PARD3B	ENST00000358768.6	c.1434+2503C>T		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.273 AC: 41465 AN: 151954 Hom.: 6528 Cov.: 32

Gnomad AFR AF: 0.132

Gnomad AMI AF: 0.321

Gnomad AMR AF: 0.439

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.407

Gnomad SAS AF: 0.321

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.314

Gnomad OTH AF: 0.265

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

GnomAD4 genome AF: 0.273 AC: 41479 AN: 152072 Hom.: 6536 Cov.: 32 AF XY: 0.277 AC XY: 20561 AN XY: 74340

Gnomad4 AFR AF: 0.131

Gnomad4 AMR AF: 0.440

Gnomad4 ASJ AF: 0.229

Gnomad4 EAS AF: 0.407

Gnomad4 SAS AF: 0.321

Gnomad4 FIN AF: 0.246

Gnomad4 NFE AF: 0.314

Gnomad4 OTH AF: 0.265

Alfa AF: 0.302 Hom.: 4668

Bravo AF: 0.281

Asia WGS AF: 0.377 AC: 1314 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.0
DANN	Benign	0.45

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: rs10497881; hg19: chr2-205992964;