chr3-55468138-T-TAAAA

Position:

• chr3-55468138-T-TAAAA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_003392.7(WNT5A):​c.*1953_*1954insTTTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.066 (398 hom., cov: 0)
  • Failed GnomAD Quality Control
• Consequence: WNT5A NM_003392.7 3_prime_UTR
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.0260

Genes affected

WNT5A (HGNC:12784): (Wnt family member 5A) The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 3-55468138-T-TAAAA is Benign according to our data. Variant chr3-55468138-T-TAAAA is described in ClinVar as [Benign]. Clinvar id is 1242175.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0938 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
WNT5A	NM_003392.7	c.*1953_*1954insTTTT		3_prime_UTR_variant	5/5	ENST00000264634.9	NP_003383.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
WNT5A	ENST00000264634.9	c.*1953_*1954insTTTT		3_prime_UTR_variant	5/5	1	NM_003392.7	ENSP00000264634	P1
WNT5A	ENST00000474267.5	c.*1953_*1954insTTTT		3_prime_UTR_variant	6/6	5		ENSP00000417310	P1

Frequencies

GnomAD3 genomes AF: 0.0665 AC: 8886 AN: 133692 Hom.: 398 Cov.: 0

Gnomad AFR AF: 0.0198

Gnomad AMI AF: 0.0565

Gnomad AMR AF: 0.0531

Gnomad ASJ AF: 0.0825

Gnomad EAS AF: 0.000867

Gnomad SAS AF: 0.0651

Gnomad FIN AF: 0.120

Gnomad MID AF: 0.0978

Gnomad NFE AF: 0.0958

Gnomad OTH AF: 0.0575

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AC: 0 AN: 0 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

GnomAD4 genome AF: 0.0664 AC: 8883 AN: 133698 Hom.: 398 Cov.: 0 AF XY: 0.0672 AC XY: 4269 AN XY: 63550

Gnomad4 AFR AF: 0.0198

Gnomad4 AMR AF: 0.0531

Gnomad4 ASJ AF: 0.0825

Gnomad4 EAS AF: 0.000870

Gnomad4 SAS AF: 0.0658

Gnomad4 FIN AF: 0.120

Gnomad4 NFE AF: 0.0958

Gnomad4 OTH AF: 0.0562

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

May 18, 2021

- -

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: rs78756487; hg19: chr3-55502166;