NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) AND not specified

Clinical significance:Benign (Last evaluated: Apr 30, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000222480.1

Allele description [Variation Report for NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)]

NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)

Genes:
LRRC51:leucine rich repeat containing 51 [Gene - HGNC]
LRTOMT:leucine rich transmembrane and O-methyltransferase domain containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
HGVS:
  • NC_000011.10:g.72095011G>C
  • NG_021423.1:g.19676G>C
  • NM_001145307.5:c.352G>C
  • NM_001145308.4:c.-52G>C
  • NM_001145308.5:c.-52G>C
  • NM_001145309.4:c.-52G>C
  • NM_001145310.4:c.-52G>C
  • NM_001205138.4:c.298G>C
  • NM_001271471.3:c.352G>C
  • NM_001318803.2:c.352G>C
  • NM_145309.6:c.352G>CMANE SELECT
  • NP_001138779.1:p.Gly118Arg
  • NP_001192067.1:p.Gly100Arg
  • NP_001258400.1:p.Gly118Arg
  • NP_001305732.1:p.Gly118Arg
  • NP_660352.1:p.Gly118Arg
  • NC_000011.9:g.71806057G>C
  • NM_001318803.1:c.352G>C
  • NM_145309.2:c.352G>C
  • NR_026886.4:n.707G>C
  • NR_134858.2:n.306G>C
Protein change:
G100R
Links:
dbSNP: rs149637884
NCBI 1000 Genomes Browser:
rs149637884
Molecular consequence:
  • NM_001145308.4:c.-52G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145308.5:c.-52G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145309.4:c.-52G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145310.4:c.-52G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145307.5:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001205138.4:c.298G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271471.3:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318803.2:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145309.6:c.352G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_026886.4:n.707G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134858.2:n.306G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
11

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000269232Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1111not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000269232.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)

Description

Gly118Arg in Exon 05 of LRTOMT: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (43/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs149637884).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided11not provided11not provided

Last Updated: Nov 27, 2021

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