NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763189.1

Allele description [Variation Report for NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)]

NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

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.990T>A (p.Tyr330Ter)
HGVS:
  • NC_000009.12:g.131512044T>A
  • NG_008896.1:g.14143T>A
  • NM_001077365.2:c.990T>AMANE SELECT
  • NM_001077366.2:c.828T>A
  • NM_001136113.2:c.990T>A
  • NM_001136114.2:c.639T>A
  • NM_001353193.2:c.1056T>A
  • NM_001353194.2:c.828T>A
  • NM_001353195.2:c.639T>A
  • NM_001353196.2:c.900T>A
  • NM_001353197.2:c.894T>A
  • NM_001353198.2:c.894T>A
  • NM_001353199.2:c.705T>A
  • NM_001353200.2:c.534T>A
  • NM_001374689.1:c.978T>A
  • NM_001374690.1:c.990T>A
  • NM_001374691.1:c.639T>A
  • NM_001374692.1:c.639T>A
  • NM_001374693.1:c.824+577T>A
  • NM_001374695.1:c.600T>A
  • NM_007171.4:c.1056T>A
  • NP_001070833.1:p.Tyr330Ter
  • NP_001070834.1:p.Tyr276Ter
  • NP_001129585.1:p.Tyr330Ter
  • NP_001129586.1:p.Tyr213Ter
  • NP_001340122.2:p.Tyr352Ter
  • NP_001340123.1:p.Tyr276Ter
  • NP_001340124.1:p.Tyr213Ter
  • NP_001340125.1:p.Tyr300Ter
  • NP_001340126.2:p.Tyr298Ter
  • NP_001340127.2:p.Tyr298Ter
  • NP_001340128.2:p.Tyr235Ter
  • NP_001340129.1:p.Tyr178Ter
  • NP_001361618.1:p.Tyr326Ter
  • NP_001361619.1:p.Tyr330Ter
  • NP_001361620.1:p.Tyr213Ter
  • NP_001361621.1:p.Tyr213Ter
  • NP_001361624.1:p.Tyr200Ter
  • NP_009102.4:p.Tyr352Ter
  • LRG_842t1:c.1056T>A
  • LRG_842t2:c.990T>A
  • LRG_842p1:p.Tyr352Ter
  • LRG_842p2:p.Tyr330Ter
  • NC_000009.11:g.134387431T>A
  • NR_148391.2:n.1024T>A
  • NR_148392.2:n.1242T>A
  • NR_148393.2:n.1024T>A
  • NR_148394.2:n.917T>A
  • NR_148395.2:n.1176T>A
  • NR_148396.2:n.810T>A
  • NR_148397.2:n.1074T>A
  • NR_148398.2:n.1029T>A
  • NR_148399.2:n.1416T>A
  • NR_148400.2:n.1015T>A
Protein change:
Y178*
Links:
dbSNP: rs765230689
NCBI 1000 Genomes Browser:
rs765230689
Molecular consequence:
  • NM_001374693.1:c.824+577T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148391.2:n.1024T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1242T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1024T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.917T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.1176T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.810T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1074T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1029T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.1416T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1015T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001077365.2:c.990T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077366.2:c.828T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001136113.2:c.990T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001136114.2:c.639T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353193.2:c.1056T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353194.2:c.828T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353195.2:c.639T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353196.2:c.900T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353197.2:c.894T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353198.2:c.894T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353199.2:c.705T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353200.2:c.534T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374689.1:c.978T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374690.1:c.990T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374691.1:c.639T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374692.1:c.639T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374695.1:c.600T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007171.4:c.1056T>A - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV000893801Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
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, SCV000893801.1

#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: Jun 14, 2021

Support Center