NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) AND multiple conditions

Clinical significance:Benign (Last evaluated: Nov 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000534768.5

Allele description [Variation Report for NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)]

NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)

Gene:
POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)
HGVS:
  • NC_000014.9:g.77286814C>T
  • NG_008897.1:g.39069G>A
  • NM_013382.7:c.1262G>AMANE SELECT
  • NP_037514.2:p.Arg421Gln
  • NP_037514.2:p.Arg421Gln
  • LRG_844t1:c.1262G>A
  • LRG_844:g.39069G>A
  • LRG_844p1:p.Arg421Gln
  • NC_000014.8:g.77753157C>T
  • NM_013382.5:c.1262G>A
Protein change:
R421Q
Links:
dbSNP: rs151078549
NCBI 1000 Genomes Browser:
rs151078549
Molecular consequence:
  • NM_013382.7:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 (MDDGA2)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
Identifiers:
MONDO: MONDO:0013154; MedGen: C3150411; Orphanet: 588; Orphanet: 899; OMIM: 613150
Name:
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 (MDDGB2)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Identifiers:
MONDO: MONDO:0013160; MedGen: C3150416; OMIM: 613156
Name:
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 (MDDGC2)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14
Identifiers:
MONDO: MONDO:0013162; MedGen: C3150418; Orphanet: 206559; OMIM: 613158

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000649918Invitaecriteria provided, single submitter
Benign
(Nov 27, 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, SCV000649918.5

#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: Dec 4, 2021

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