NM_000431.4(MVK):c.32C>T (p.Pro11Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 30, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000214007.1

Allele description [Variation Report for NM_000431.4(MVK):c.32C>T (p.Pro11Leu)]

NM_000431.4(MVK):c.32C>T (p.Pro11Leu)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.32C>T (p.Pro11Leu)
HGVS:
  • NC_000012.12:g.109574854C>T
  • NG_007096.1:g.3644G>A
  • NG_007702.1:g.6160C>T
  • NM_000431.4:c.32C>TMANE SELECT
  • NM_001114185.3:c.32C>T
  • NM_001301182.2:c.32C>T
  • NP_000422.1:p.Pro11Leu
  • NP_001107657.1:p.Pro11Leu
  • NP_001288111.1:p.Pro11Leu
  • LRG_156t1:c.32C>T
  • LRG_156:g.6160C>T
  • NC_000012.11:g.110012659C>T
  • NM_000431.2:c.32C>T
Protein change:
P11L
Links:
dbSNP: rs876661001
NCBI 1000 Genomes Browser:
rs876661001
Molecular consequence:
  • NM_000431.4:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279115GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 30, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000279115.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P11L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position within the ribosomal protein S5 domain 2-type fold that is conserved across species. This variant is not predicted to affect splicing and in-silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (A10V and G12R) have been reported in the Human Gene Mutation Database in association with hyperimmunoglobulin D and periodic fevers (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

Support Center