U.S. flag

An official website of the United States government

NM_006745.5(MSMO1):c.531+15T>C AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 19, 2022
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:
RCV002586348.3

Allele description [Variation Report for NM_006745.5(MSMO1):c.531+15T>C]

NM_006745.5(MSMO1):c.531+15T>C

Gene:
MSMO1:methylsterol monooxygenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.3
Genomic location:
Preferred name:
NM_006745.5(MSMO1):c.531+15T>C
HGVS:
  • NC_000004.12:g.165338793T>C
  • NG_042288.1:g.16128T>C
  • NM_001017369.3:c.138+15T>C
  • NM_006745.5:c.531+15T>CMANE SELECT
  • NC_000004.11:g.166259945T>C
Molecular consequence:
  • NM_001017369.3:c.138+15T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006745.5:c.531+15T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On
  • Rattus norvegicus solute carrier family 25 member 3 (Slc25a3), transcript varian...
    Rattus norvegicus solute carrier family 25 member 3 (Slc25a3), transcript variant 2, mRNA
    gi|399124779|ref|NM_139100.2|
    Nucleotide
  • Petrositis
    Petrositis
    Inflammation of PETROUS BONE.<br/>Year introduced: 2012
    MeSH
  • Periostitis
    Periostitis
    Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infect...<br/>
    MeSH
  • Mastoiditis
    Mastoiditis
    Inflammation of the honeycomb-like MASTOID BONE in the skull just behind the ear. It is usually a complication of OTITIS MEDIA.<br/>
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002933466Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Aug 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002933466.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024