NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) AND multiple conditions

Clinical significance:Benign (Last evaluated: Apr 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576701.1

Allele description [Variation Report for NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)]

NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)

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.1233C>A (p.Asp411Glu)
Other names:
p.D433E:GAC>GAA
HGVS:
  • NC_000009.12:g.131515483C>A
  • NG_008896.1:g.17582C>A
  • NM_001077365.2:c.1233C>AMANE SELECT
  • NM_001077366.2:c.1071C>A
  • NM_001136113.2:c.1233C>A
  • NM_001136114.2:c.882C>A
  • NM_001353193.2:c.1299C>A
  • NM_001353194.2:c.1071C>A
  • NM_001353195.2:c.882C>A
  • NM_001353196.2:c.1143C>A
  • NM_001353197.2:c.1137C>A
  • NM_001353198.2:c.1137C>A
  • NM_001353199.2:c.948C>A
  • NM_001353200.2:c.777C>A
  • NM_001374689.1:c.1221C>A
  • NM_001374690.1:c.1233C>A
  • NM_001374691.1:c.882C>A
  • NM_001374692.1:c.882C>A
  • NM_001374693.1:c.882C>A
  • NM_001374695.1:c.843C>A
  • NM_007171.3:c.1299C>A
  • NM_007171.4:c.1299C>A
  • NP_001070833.1:p.Asp411Glu
  • NP_001070834.1:p.Asp357Glu
  • NP_001129585.1:p.Asp411Glu
  • NP_001129586.1:p.Asp294Glu
  • NP_001340122.2:p.Asp433Glu
  • NP_001340123.1:p.Asp357Glu
  • NP_001340124.1:p.Asp294Glu
  • NP_001340125.1:p.Asp381Glu
  • NP_001340126.2:p.Asp379Glu
  • NP_001340127.2:p.Asp379Glu
  • NP_001340128.2:p.Asp316Glu
  • NP_001340129.1:p.Asp259Glu
  • NP_001361618.1:p.Asp407Glu
  • NP_001361619.1:p.Asp411Glu
  • NP_001361620.1:p.Asp294Glu
  • NP_001361621.1:p.Asp294Glu
  • NP_001361622.1:p.Asp294Glu
  • NP_001361624.1:p.Asp281Glu
  • NP_009102.3:p.Asp433Glu
  • NP_009102.3:p.Asp433Glu
  • NP_009102.4:p.Asp433Glu
  • LRG_842t1:c.1299C>A
  • LRG_842t2:c.1233C>A
  • LRG_842p1:p.Asp433Glu
  • LRG_842p2:p.Asp411Glu
  • NC_000009.11:g.134390870C>A
  • NR_148391.2:n.1267C>A
  • NR_148392.2:n.1485C>A
  • NR_148393.2:n.1267C>A
  • NR_148394.2:n.1160C>A
  • NR_148395.2:n.1419C>A
  • NR_148396.2:n.1053C>A
  • NR_148397.2:n.1317C>A
  • NR_148398.2:n.1272C>A
  • NR_148399.2:n.1659C>A
  • NR_148400.2:n.1258C>A
  • Q9Y6A1:p.Asp433Glu
Protein change:
D259E
Links:
UniProtKB: Q9Y6A1#VAR_034392; dbSNP: rs11243406
NCBI 1000 Genomes Browser:
rs11243406
Molecular consequence:
  • NM_001077365.2:c.1233C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1071C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1233C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.882C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1299C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1071C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.882C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1143C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1137C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1137C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.948C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.777C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1221C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1233C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.882C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.882C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.882C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.843C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.1299C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1299C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1267C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1485C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1267C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1160C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1419C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1053C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1317C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1272C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1659C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1258C>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
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 (MDDGA1)
Synonyms:
Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
Name:
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 (MDDGB1)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Identifiers:
MONDO: MONDO:0013159; MedGen: C3150415; OMIM: 613155

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000677414Athena Diagnostics Inccriteria provided, single submitter
Benign
(Apr 14, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Athena Diagnostics Inc, SCV000677414.1

#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: Oct 24, 2021

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