NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001597177.2

Allele description [Variation Report for NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)]

NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)

Gene:

WNT5A:Wnt family member 5A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p14.3

Genomic location:

Preferred name:

NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup)

HGVS:

NC_000003.12:g.55474533_55474538dup
NG_031992.1:g.18109_18114dup
NM_001256105.1:c.442_447dup
NM_001377271.1:c.442_447dup
NM_001377272.1:c.442_447dup
NM_003392.7:c.487_492dupMANE SELECT
NP_001243034.1:p.Gly148_Cys149dup
NP_001364200.1:p.Gly148_Cys149dup
NP_001364201.1:p.Gly148_Cys149dup
NP_003383.2:p.Gly163_Cys164dup
NP_003383.4:p.Gly163_Cys164dup
NC_000003.11:g.55508561_55508566dup
NM_003392.4:c.487_492dup

Links:

dbSNP: rs1553677967

NCBI 1000 Genomes Browser:

rs1553677967

Molecular consequence:

NM_001256105.1:c.442_447dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001377271.1:c.442_447dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001377272.1:c.442_447dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003392.7:c.487_492dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Papio anubis, whole genome shotgun sequence
Papio anubis, whole genome shotgun sequence
gi|388789588|gb|AHZZ01025726.1||gnl AHZZ01|contig_25726

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001832354	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Nov 30, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001832354

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Nov 30, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV001832354.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

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