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NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 5, 2018)
Last evaluated:
Mar 5, 2018
Accession:
VCV000548559.2
Variation ID:
548559
Description:
single nucleotide variant
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NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)

Allele ID
539007
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.1
Genomic location
7: 40133105 (GRCh38) GRCh38 UCSC
7: 40172704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.40172704C>A
NC_000007.14:g.40133105C>A
NG_016989.2:g.6548G>T
... more HGVS
Protein change
S165I
Other names
-
Canonical SPDI
NC_000007.14:40133104:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs778910338
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 Mar 5, 2018 RCV000662084.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPLKIP - - GRCh38
GRCh37
30 62

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 05, 2018)
criteria provided, single submitter
Method: clinical testing
Trichothiodystrophy, nonphotosensitive 1
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000784421.1
Submitted: (Mar 05, 2018)
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 rs778910338...

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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 Sep 07, 2021