U.S. flag

An official website of the United States government

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

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Apr 28, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV000228691.10

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:
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
SCV000265825Center for Genetic Medicine Research, Children's National Medical Center
criteria provided, single submitter

(Punetha et al. (J Neuromuscul Dis. 2016))
Uncertain significance
(Dec 1, 2015)
unknownresearch

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

SCV001880388Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)
Likely benign
(Apr 28, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002068523Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 7, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing, research

Citations

PubMed

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PubMed [citation]
PMID:
27854218

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (3)

Details of each submission

From Center for Genetic Medicine Research, Children's National Medical Center, SCV000265825.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV001880388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV002068523.1

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

Last Updated: May 7, 2024