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NM_153485.3(NUP155):c.1348A>G (p.Met450Val)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 31, 2020)
Last evaluated:
Feb 12, 2020
Accession:
VCV000977374.2
Variation ID:
977374
Description:
single nucleotide variant
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NM_153485.3(NUP155):c.1348A>G (p.Met450Val)

Allele ID
965490
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.2
Genomic location
5: 37333633 (GRCh38) GRCh38 UCSC
5: 37333735 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.37333633T>C
NC_000005.9:g.37333735T>C
NM_153485.3:c.1348A>G MANE Select NP_705618.1:p.Met450Val missense
... more HGVS
Protein change
M391V, M450V
Other names
-
Canonical SPDI
NC_000005.10:37333632:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Feb 12, 2020 RCV001255007.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NUP155 - - GRCh38
GRCh37
65 117

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 12, 2020)
no assertion criteria provided
Method: clinical testing
Atrial fibrillation
Allele origin: germline
New York Genome Center
Accession: SCV001431096.2
Submitted: (Jul 31, 2020)
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.

Record last updated Sep 18, 2020