chr2-205271548-T-C

Position:

• chr2-205271548-T-C

Variant summary

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

The NM_001302769.2(PARD3B):​c.2185+25726T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.138 in 152,250 control chromosomes in the GnomAD database, including 1,661 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 0.14 (1661 hom., cov: 32)
• Consequence: PARD3B NM_001302769.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.595

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=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.239 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PARD3B	NM_001302769.2	c.2185+25726T>C		intron_variant		ENST00000406610.7	NP_001289698.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PARD3B	ENST00000406610.7	c.2185+25726T>C		intron_variant		1	NM_001302769.2	ENSP00000385848	P1
PARD3B	ENST00000349953.7	c.2185+25726T>C		intron_variant		1		ENSP00000340280
PARD3B	ENST00000351153.5	c.2185+25726T>C		intron_variant		1		ENSP00000317261
PARD3B	ENST00000358768.6	c.1999+25726T>C		intron_variant		1		ENSP00000351618

Frequencies

GnomAD3 genomes AF: 0.138 AC: 21006 AN: 152132 Hom.: 1660 Cov.: 32

Gnomad AFR AF: 0.191

Gnomad AMI AF: 0.0154

Gnomad AMR AF: 0.102

Gnomad ASJ AF: 0.142

Gnomad EAS AF: 0.251

Gnomad SAS AF: 0.0939

Gnomad FIN AF: 0.0595

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.121

Gnomad OTH AF: 0.162

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

GnomAD4 genome AF: 0.138 AC: 21036 AN: 152250 Hom.: 1661 Cov.: 32 AF XY: 0.132 AC XY: 9861 AN XY: 74462

Gnomad4 AFR AF: 0.192

Gnomad4 AMR AF: 0.101

Gnomad4 ASJ AF: 0.142

Gnomad4 EAS AF: 0.251

Gnomad4 SAS AF: 0.0942

Gnomad4 FIN AF: 0.0595

Gnomad4 NFE AF: 0.121

Gnomad4 OTH AF: 0.161

Alfa AF: 0.127 Hom.: 744

Bravo AF: 0.146

Asia WGS AF: 0.175 AC: 608 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
DANN	Benign	0.64

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: rs13424027; hg19: chr2-206136272;