NM_001077365.2(POMT1):c.986+9A>G AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001085720.2

Allele description [Variation Report for NM_001077365.2(POMT1):c.986+9A>G]

NM_001077365.2(POMT1):c.986+9A>G

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.986+9A>G
HGVS:
  • NC_000009.12:g.131511476A>G
  • NG_008896.1:g.13575A>G
  • NM_001077365.2:c.986+9A>GMANE SELECT
  • NM_001077366.2:c.824+9A>G
  • NM_001136113.1:c.986+9A>G
  • NM_001136114.1:c.635+9A>G
  • NM_001353193.2:c.1052+9A>G
  • NM_001353194.2:c.824+9A>G
  • NM_001353195.2:c.635+9A>G
  • NM_001353196.2:c.896+9A>G
  • NM_001353197.2:c.890+9A>G
  • NM_001353198.2:c.890+9A>G
  • NM_001353199.2:c.701+9A>G
  • NM_001353200.2:c.530+9A>G
  • NM_007171.3:c.1052+9A>G
  • LRG_842t2:c.986+9A>G
  • NC_000009.11:g.134386863A>G
Links:
dbSNP: rs202095070
NCBI 1000 Genomes Browser:
rs202095070
Molecular consequence:
  • NM_001077365.2:c.986+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077366.2:c.824+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001136113.1:c.986+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001136114.1:c.635+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353193.2:c.1052+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353194.2:c.824+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353195.2:c.635+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353196.2:c.896+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353197.2:c.890+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353198.2:c.890+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353199.2:c.701+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353200.2:c.530+9A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007171.3:c.1052+9A>G - intron variant - [Sequence Ontology: SO:0001627]

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:
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
Name:
Walker-Warburg congenital muscular dystrophy (MDDGA1)
Synonyms:
HARD syndrome; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome
Identifiers:
MONDO: MONDO:0000171; MedGen: C0265221; Orphanet: 899; OMIM: PS236670

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000649863Invitaecriteria provided, single submitter
Likely benign
(Nov 26, 2020)
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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000649863.4

#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: Jun 23, 2021

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