NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) AND Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

Clinical significance:Uncertain significance (Last evaluated: Oct 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001168475.1

Allele description [Variation Report for NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)]

NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
HGVS:
  • NC_000009.12:g.131521440G>A
  • NG_008896.1:g.23539G>A
  • NM_001077365.2:c.1793G>AMANE SELECT
  • NM_001077366.2:c.1631G>A
  • NM_001136113.2:c.1793G>A
  • NM_001136114.2:c.1442G>A
  • NM_001353193.2:c.1859G>A
  • NM_001353194.2:c.1631G>A
  • NM_001353195.2:c.1442G>A
  • NM_001353196.2:c.1703G>A
  • NM_001353197.2:c.1697G>A
  • NM_001353198.2:c.1697G>A
  • NM_001353199.2:c.1508G>A
  • NM_001353200.2:c.1337G>A
  • NM_001374689.1:c.1781G>A
  • NM_001374690.1:c.1574G>A
  • NM_001374691.1:c.1442G>A
  • NM_001374692.1:c.1442G>A
  • NM_001374693.1:c.1442G>A
  • NM_001374695.1:c.1403G>A
  • NM_007171.3:c.1859G>A
  • NM_007171.4:c.1859G>A
  • NP_001070833.1:p.Arg598Gln
  • NP_001070834.1:p.Arg544Gln
  • NP_001129585.1:p.Arg598Gln
  • NP_001129586.1:p.Arg481Gln
  • NP_001340122.2:p.Arg620Gln
  • NP_001340123.1:p.Arg544Gln
  • NP_001340124.1:p.Arg481Gln
  • NP_001340125.1:p.Arg568Gln
  • NP_001340126.2:p.Arg566Gln
  • NP_001340127.2:p.Arg566Gln
  • NP_001340128.2:p.Arg503Gln
  • NP_001340129.1:p.Arg446Gln
  • NP_001361618.1:p.Arg594Gln
  • NP_001361619.1:p.Arg525Gln
  • NP_001361620.1:p.Arg481Gln
  • NP_001361621.1:p.Arg481Gln
  • NP_001361622.1:p.Arg481Gln
  • NP_001361624.1:p.Arg468Gln
  • NP_009102.3:p.Arg620Gln
  • NP_009102.4:p.Arg620Gln
  • LRG_842t1:c.1859G>A
  • LRG_842t2:c.1793G>A
  • LRG_842p1:p.Arg620Gln
  • LRG_842p2:p.Arg598Gln
  • NC_000009.11:g.134396827G>A
  • NR_148391.2:n.1827G>A
  • NR_148392.2:n.2045G>A
  • NR_148393.2:n.1966G>A
  • NR_148394.2:n.1720G>A
  • NR_148395.2:n.2118G>A
  • NR_148396.2:n.1752G>A
  • NR_148397.2:n.1877G>A
  • NR_148398.2:n.1832G>A
  • NR_148399.2:n.2358G>A
  • NR_148400.2:n.1957G>A
Protein change:
R446Q
Links:
dbSNP: rs202140413
NCBI 1000 Genomes Browser:
rs202140413
Molecular consequence:
  • NM_001077365.2:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1631G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1703G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1781G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.1859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1827G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.2045G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1966G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1720G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2118G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1752G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1877G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1832G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2358G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1957G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 (MDDGC1)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11
Identifiers:
MONDO: MONDO:0012248; MedGen: C1836373; Orphanet: 86812; OMIM: 609308

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001331069Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Oct 29, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ.

PLoS One. 2017;12(2):e0170517. doi: 10.1371/journal.pone.0170517. Erratum in: PLoS One. 2017 Aug 10;12 (8):e0183406.

PubMed [citation]
PMID:
28182637
PMCID:
PMC5300266

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001331069.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 8, 2021

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