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NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 3, 2022
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:
RCV002477237.8

Allele description [Variation Report for NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)]

NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)

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.132A>C (p.Glu44Asp)
HGVS:
  • NC_000009.12:g.131506123A>C
  • NG_008896.1:g.8222A>C
  • NM_001077365.2:c.132A>CMANE SELECT
  • NM_001077366.2:c.-31A>C
  • NM_001136113.2:c.132A>C
  • NM_001136114.2:c.-122-280A>C
  • NM_001353193.2:c.132A>C
  • NM_001353194.2:c.-31A>C
  • NM_001353195.2:c.-122-280A>C
  • NM_001353196.2:c.123-280A>C
  • NM_001353197.2:c.-31A>C
  • NM_001353198.2:c.-31A>C
  • NM_001353199.2:c.-122-280A>C
  • NM_001353200.2:c.-80-280A>C
  • NM_001374689.1:c.-31A>C
  • NM_001374690.1:c.132A>C
  • NM_001374691.1:c.-71-1245A>C
  • NM_001374692.1:c.-71-1245A>C
  • NM_001374693.1:c.-31A>C
  • NM_001374695.1:c.-30+1783A>C
  • NM_007171.4:c.132A>C
  • NP_001070833.1:p.Glu44Asp
  • NP_001129585.1:p.Glu44Asp
  • NP_001340122.2:p.Glu44Asp
  • NP_001361619.1:p.Glu44Asp
  • NP_009102.3:p.Glu44Asp
  • NP_009102.3:p.Glu44Asp
  • NP_009102.4:p.Glu44Asp
  • LRG_842t1:c.132A>C
  • LRG_842t2:c.132A>C
  • LRG_842p1:p.Glu44Asp
  • LRG_842p2:p.Glu44Asp
  • NC_000009.11:g.134381510A>C
  • NM_007171.3:c.132A>C
  • NR_148391.2:n.166A>C
  • NR_148392.2:n.318A>C
  • NR_148393.2:n.166A>C
  • NR_148394.2:n.166A>C
  • NR_148395.2:n.318A>C
  • NR_148398.2:n.166A>C
  • NR_148399.2:n.558A>C
Protein change:
E44D
Links:
dbSNP: rs398124244
NCBI 1000 Genomes Browser:
rs398124244
Molecular consequence:
  • NM_001077366.2:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353194.2:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353197.2:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353198.2:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374689.1:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374693.1:c.-31A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001136114.2:c.-122-280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353195.2:c.-122-280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353196.2:c.123-280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353199.2:c.-122-280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353200.2:c.-80-280A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374691.1:c.-71-1245A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374692.1:c.-71-1245A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374695.1:c.-30+1783A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077365.2:c.132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.132A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.318A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.318A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.166A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.558A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2K
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Identifiers:
MONDO: MONDO:0012248; MedGen: C1836373; Orphanet: 86812; OMIM: 609308
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (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:
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (MDDGB1)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Identifiers:
MONDO: MONDO:0013159; MedGen: C5436962; OMIM: 613155

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002782030Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(May 3, 2022)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002782030.1

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

Last Updated: Jul 15, 2024