Variant rs3976504 details in Genebe, Genetics Data Aggregator

Variant summary

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

The NM_015472.6(WWTR1):c.432-28715_432-28711delAAAAA 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: not found (cov: 0)

Consequence

WWTR1
NM_015472.6 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0450

Variant links:

Genes affected

WWTR1 (HGNC:24042): (WW domain containing transcription regulator 1) Enables transcription coactivator activity. Involved in several processes, including hippo signaling; positive regulation of cell differentiation; and regulation of signal transduction. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

WWTR1 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
WWTR1	NM_015472.6 linkuse as main transcript	c.432-28715_432-28711delAAAAA		intron_variant		ENST00000360632.8	NP_056287.1

Ensembl

Gene	Transcript	HGVSc	Effect	TSL	MANE	Protein	UniProt
WWTR1	ENST00000360632.8 linkuse as main transcript	c.432-28715_432-28711delAAAAA	intron_variant	1	NM_015472.6	ENSP00000353847.3	Q9GZV5
WWTR1	ENST00000465804.5 linkuse as main transcript	c.432-28715_432-28711delAAAAA	intron_variant	2		ENSP00000419465.1	Q9GZV5
WWTR1	ENST00000467467.5 linkuse as main transcript	c.432-28715_432-28711delAAAAA	intron_variant	5		ENSP00000419234.1	Q9GZV5
WWTR1	ENST00000479238.1 linkuse as main transcript	c.432-28715_432-28711delAAAAA	intron_variant	3		ENSP00000418580.1	C9J038

Frequencies

GnomAD3 genomes

Cov.:

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

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.