5-168431457-TCTGGCTGGCTGGCTGGCTGGCTGGCTGG-TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG

Position:

• chr5-168431457-TCTGGCTGGCTGGCTGGCTGGCTGGCTGG-TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_015238.3(WWC1):​c.2280+53_2280+60dupGCTGGCTG variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00026 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00012 (0 hom.)
• Consequence: WWC1 NM_015238.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.765

Genes affected

WWC1 (HGNC:29435): (WW and C2 domain containing 1) The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

WWC1 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
WWC1	NM_015238.3	c.2280+53_2280+60dupGCTGGCTG		intron_variant		ENST00000265293.9	NP_056053.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
WWC1	ENST00000265293.9	c.2280+53_2280+60dupGCTGGCTG		intron_variant		1	NM_015238.3	ENSP00000265293.4

Frequencies

GnomAD3 genomes AF: 0.000263 AC: 39 AN: 148352 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000274

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000269

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00120

Gnomad SAS AF: 0.000452

Gnomad FIN AF: 0.000689

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000119

Gnomad OTH AF: 0.000500

GnomAD4 exome AF: 0.000122 AC: 155 AN: 1266090 Hom.: 0 Cov.: 0 AF XY: 0.000119 AC XY: 75 AN XY: 628354

Gnomad4 AFR exome AF: 0.000243

Gnomad4 AMR exome AF: 0.000248

Gnomad4 ASJ exome AF: 0.0000487

Gnomad4 EAS exome AF: 0.00119

Gnomad4 SAS exome AF: 0.0000719

Gnomad4 FIN exome AF: 0.000253

Gnomad4 NFE exome AF: 0.0000690

Gnomad4 OTH exome AF: 0.000225

GnomAD4 genome AF: 0.000263 AC: 39 AN: 148462 Hom.: 0 Cov.: 0 AF XY: 0.000277 AC XY: 20 AN XY: 72194

Gnomad4 AFR AF: 0.000273

Gnomad4 AMR AF: 0.000269

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00121

Gnomad4 SAS AF: 0.000452

Gnomad4 FIN AF: 0.000689

Gnomad4 NFE AF: 0.000119

Gnomad4 OTH AF: 0.000494

ClinVar

Not reported in ClinVar

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: rs11279828; hg19: chr5-167858462;