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NM_006267.5(RANBP2):c.728T>C (p.Met243Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000469483.4
Variation ID:
469483
Description:
single nucleotide variant
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NM_006267.5(RANBP2):c.728T>C (p.Met243Thr)

Allele ID
448674
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 108736195 (GRCh38) GRCh38 UCSC
2: 109352651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.109352651T>C
NC_000002.12:g.108736195T>C
NM_006267.5:c.728T>C MANE Select NP_006258.3:p.Met243Thr missense
NG_012210.1:g.21715T>C
Protein change
M243T
Other names
-
Canonical SPDI
NC_000002.12:108736194:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00459 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00408
Trans-Omics for Precision Medicine (TOPMed) 0.00457
1000 Genomes Project 0.00459
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00438
The Genome Aggregation Database (gnomAD), exomes 0.00104
Exome Aggregation Consortium (ExAC) 0.00131
Links
ClinGen: CA1822110
dbSNP: rs139151870
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000534686.4
Benign 1 criteria provided, single submitter Mar 3, 2017 RCV000602236.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RANBP2 - - GRCh38
GRCh37
639 683

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000731184.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Encephalopathy, acute, infection-induced, 3, suceptibility to
Allele origin: germline
Invitae
Accession: SCV000646838.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs139151870...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021