2-37680992-A-G

Position:

• chr2-37680992-A-G

Variant summary

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

The ENST00000453555.1(CDC42EP3):​c.-236+7087T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.742 in 152,108 control chromosomes in the GnomAD database, including 42,218 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 0.74 (42218 hom., cov: 32)
• Consequence: CDC42EP3 ENST00000453555.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.319

Genes affected

CDC42EP3 (HGNC:16943): (CDC42 effector protein 3) This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

LOC107985870 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.876 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC107985870	XR_001739410.2	n.569+2140T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDC42EP3	ENST00000453555.1	c.-236+7087T>C		intron_variant		3		ENSP00000398062.1

Frequencies

GnomAD3 genomes AF: 0.742 AC: 112751 AN: 151990 Hom.: 42169 Cov.: 32

Gnomad AFR AF: 0.797

Gnomad AMI AF: 0.695

Gnomad AMR AF: 0.779

Gnomad ASJ AF: 0.687

Gnomad EAS AF: 0.898

Gnomad SAS AF: 0.845

Gnomad FIN AF: 0.685

Gnomad MID AF: 0.706

Gnomad NFE AF: 0.693

Gnomad OTH AF: 0.739

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

GnomAD4 genome AF: 0.742 AC: 112857 AN: 152108 Hom.: 42218 Cov.: 32 AF XY: 0.747 AC XY: 55521 AN XY: 74350

Gnomad4 AFR AF: 0.797

Gnomad4 AMR AF: 0.779

Gnomad4 ASJ AF: 0.687

Gnomad4 EAS AF: 0.897

Gnomad4 SAS AF: 0.845

Gnomad4 FIN AF: 0.685

Gnomad4 NFE AF: 0.693

Gnomad4 OTH AF: 0.740

Alfa AF: 0.703 Hom.: 50686

Bravo AF: 0.747

Asia WGS AF: 0.880 AC: 3056 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.0
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2888542; hg19: chr2-37908135;