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

Clinical significance:Uncertain significance (Last evaluated: Apr 22, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415416.1

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:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Hearing impairment
Synonyms:
Congenital hearing loss; Hearing defect; Hypoacusis
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
Name:
Gait disturbance
Synonyms:
Abnormal gait; Gait abnormalities; Gait difficulties; See all synonyms [MedGen]
Identifiers:
MedGen: C0575081; Human Phenotype Ontology: HP:0001288
Name:
Sensory neuropathy
Synonyms:
Peripheral sensory neuropathy
Identifiers:
MONDO: MONDO:0002321; MedGen: C0151313; Human Phenotype Ontology: HP:0000763
Name:
Poor speech
Synonyms:
Difficulty speaking; Problems speaking
Identifiers:
MedGen: C1848207; Human Phenotype Ontology: HP:0002465

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492620Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Apr 22, 2015)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492620.1

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

Last Updated: Oct 7, 2021

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