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NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 6, 2012
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000037013.5

Allele description [Variation Report for NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=)]

NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=)

Genes:
LRTOMT:leucine rich transmembrane and O-methyltransferase domain containing [Gene - OMIM - HGNC]
TOMT:transmembrane O-methyltransferase [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=)
HGVS:
  • NC_000011.10:g.72106074A>G
  • NG_021423.1:g.30739A>G
  • NM_001145308.5:c.222A>G
  • NM_001145309.4:c.222A>G
  • NM_001145310.4:c.102A>G
  • NM_001393500.2:c.123A>GMANE SELECT
  • NP_001138780.1:p.Ser74=
  • NP_001138780.1:p.Ser74=
  • NP_001138781.1:p.Ser74=
  • NP_001138782.1:p.Ser34=
  • NP_001380429.1:p.Ser41=
  • NC_000011.9:g.71817120A>G
  • NM_001145308.1:c.222A>G
  • NM_001145308.4:c.222A>G
  • c.222A>G
  • p.Ser74Ser
Links:
dbSNP: rs397516626
NCBI 1000 Genomes Browser:
rs397516626
Molecular consequence:
  • NM_001145308.5:c.222A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145309.4:c.222A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001145310.4:c.102A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001393500.2:c.123A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060669Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Dec 6, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, Mass General Brigham Personalized Medicine, SCV000060669.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Ser74Ser in exon 5 of LRTOMT: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Oct 8, 2024