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NM_153485.3(NUP155):c.1204G>A (p.Val402Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 22, 2020)
Last evaluated:
Apr 11, 2020
Accession:
VCV000870608.1
Variation ID:
870608
Description:
single nucleotide variant
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NM_153485.3(NUP155):c.1204G>A (p.Val402Met)

Allele ID
858770
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.2
Genomic location
5: 37341132 (GRCh38) GRCh38 UCSC
5: 37341234 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.37341132C>T
NC_000005.9:g.37341234C>T
NM_153485.3:c.1204G>A MANE Select NP_705618.1:p.Val402Met missense
... more HGVS
Protein change
V343M, V402M
Other names
-
Canonical SPDI
NC_000005.10:37341131:C:T
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 criteria provided, single submitter Apr 11, 2020 RCV001090184.1
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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
(Apr 11, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 15
Allele origin: unknown
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology
Accession: SCV001244314.1
Submitted: (Apr 22, 2020)
Evidence details
Comment:
The c.1027G>A variant is present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and … (more)

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 Aug 19, 2021