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NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535608.2

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)]

NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)

Genes:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)
HGVS:
  • NC_000001.11:g.46192180C>T
  • NG_009205.3:g.33126G>A
  • NM_001243766.2:c.1457G>A
  • NM_001290129.2:c.1391G>A
  • NM_001290130.2:c.1028G>A
  • NM_017739.4:c.1457G>AMANE SELECT
  • NP_001230695.2:p.Arg486Gln
  • NP_001277058.2:p.Arg464Gln
  • NP_001277059.2:p.Arg343Gln
  • NP_060209.3:p.Arg486Gln
  • NP_060209.4:p.Arg486Gln
  • LRG_701t1:c.1457G>A
  • LRG_701t2:c.1457G>A
  • LRG_701:g.33126G>A
  • LRG_701p1:p.Arg486Gln
  • LRG_701p2:p.Arg486Gln
  • NC_000001.10:g.46657852C>T
  • NG_009205.2:g.33126G>A
  • NM_017739.3:c.1457G>A
Protein change:
R343Q
Links:
dbSNP: rs753030030
NCBI 1000 Genomes Browser:
rs753030030
Molecular consequence:
  • NM_001243766.2:c.1457G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290129.2:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290130.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017739.4:c.1457G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2O
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED; Limb-Girdle Muscular Dystrophy Type 3C; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013161; MedGen: C3150417; Orphanet: 206564; OMIM: 613157
Name:
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 (MDDGB3)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
Identifiers:
MONDO: MONDO:0013155; MedGen: C3150412; OMIM: 613151
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Synonyms:
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
Identifiers:
MONDO: MONDO:0009667; MedGen: C3151519; OMIM: 253280

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749625GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749625.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 11-27-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024