NM_005450.6(NOG):c.*134_*135del AND not provided

NM_005450.6(NOG):c.134_135del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 28, 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:: RCV001695565.1

Allele description [Variation Report for NM_005450.6(NOG):c.134_135del]

NM_005450.6(NOG):c.134_135del

Gene:

NOG:noggin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_005450.6(NOG):c.*134_*135del

HGVS:

NC_000017.11:g.56595056_56595057del
NG_011958.1:g.6358_6359del
NM_005450.6:c.*134_*135delMANE SELECT
NC_000017.10:g.54672417_54672418del

Links:

dbSNP: rs71139919

NCBI 1000 Genomes Browser:

rs71139919

Molecular consequence:

NM_005450.6:c.*134_*135del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Chain C, protein tyrosine phosphatase type IVA, member 1; Protein tyrosine phosp...
Chain C, protein tyrosine phosphatase type IVA, member 1; Protein tyrosine phosphatase IVA1
gi|58176683|pdb|1RXD|C

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001914155	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001914155

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 28, 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 GeneDx, SCV001914155.1

#	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: Dec 24, 2023

ClinVar

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