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NM_013382.7(POMT2):c.629T>C (p.Met210Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2019
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:
RCV001596986.4

Allele description [Variation Report for NM_013382.7(POMT2):c.629T>C (p.Met210Thr)]

NM_013382.7(POMT2):c.629T>C (p.Met210Thr)

Gene:
POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
HGVS:
  • NC_000014.9:g.77302862A>G
  • NG_008897.1:g.23021T>C
  • NM_013382.7:c.629T>CMANE SELECT
  • NP_037514.2:p.Met210Thr
  • NP_037514.2:p.Met210Thr
  • LRG_844t1:c.629T>C
  • LRG_844:g.23021T>C
  • LRG_844p1:p.Met210Thr
  • NC_000014.8:g.77769205A>G
  • NM_013382.5:c.629T>C
Protein change:
M210T
Links:
dbSNP: rs369654108
NCBI 1000 Genomes Browser:
rs369654108
Molecular consequence:
  • NM_013382.7:c.629T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001830852GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Dec 3, 2019)
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, SCV001830852.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in the heterozygous state as a variant of uncertain significance, along with a NEB variant of uncertain significance, in a patient with congenital muscular dystrophy (Punetha et al., 2016); This variant is associated with the following publications: (PMID: 27854218)

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

Last Updated: May 7, 2024