NM_006267.5(RANBP2):c.2048_2049dup (p.Ala684fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 6, 2023
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:: RCV003218957.1

Allele description [Variation Report for NM_006267.5(RANBP2):c.2048_2049dup (p.Ala684fs)]

NM_006267.5(RANBP2):c.2048_2049dup (p.Ala684fs)

Gene:

RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_006267.5(RANBP2):c.2048_2049dup (p.Ala684fs)

HGVS:

NC_000002.12:g.108753556_108753557dup
NG_012210.1:g.39076_39077dup
NG_012210.2:g.39076_39077dup
NM_001415871.1:c.2048_2049dup
NM_001415872.1:c.2045_2046dup
NM_001415873.1:c.2048_2049dup
NM_006267.5:c.2048_2049dupMANE SELECT
NP_001402800.1:p.Ala684fs
NP_001402801.1:p.Ala683fs
NP_001402802.1:p.Ala684fs
NP_006258.3:p.Ala684fs
NC_000002.11:g.109370012_109370013dup
NM_006267.4:c.2048_2049dup

Protein change:

A683fs

Molecular consequence:

NM_001415871.1:c.2048_2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001415872.1:c.2045_2046dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001415873.1:c.2048_2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006267.5:c.2048_2049dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003915103	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915103

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 6, 2023)

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, SCV003915103.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#	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: Apr 15, 2023

ClinVar

Relating variation to medicine