NM_000431.4(MVK):c.876C>T (p.Leu292=) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 26, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000237041.2

Allele description [Variation Report for NM_000431.4(MVK):c.876C>T (p.Leu292=)]

NM_000431.4(MVK):c.876C>T (p.Leu292=)

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.876C>T (p.Leu292=)
HGVS:
  • NC_000012.12:g.109591348C>T
  • NG_007702.1:g.22654C>T
  • NM_000431.4:c.876C>TMANE SELECT
  • NM_001114185.3:c.876C>T
  • NM_001301182.2:c.720C>T
  • NP_000422.1:p.Leu292=
  • NP_001107657.1:p.Leu292=
  • NP_001288111.1:p.Leu240=
  • LRG_156t1:c.876C>T
  • LRG_156:g.22654C>T
  • NC_000012.11:g.110029153C>T
  • NM_000431.2:c.876C>T
  • NM_000431.3:c.876C>T
Links:
dbSNP: rs370301290
NCBI 1000 Genomes Browser:
rs370301290
Molecular consequence:
  • NM_000431.4:c.876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114185.3:c.876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301182.2:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000293839GeneDxcriteria provided, single submitter
Likely benign
(Feb 11, 2016)
germlineclinical testing

Citation Link,

SCV001157726ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Feb 26, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293839.10

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

Description

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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157726.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

Support Center