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NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) AND Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000984207.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)]

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)

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.1463G>A (p.Arg488Gln)
Other names:
NM_017739.4(POMGNT1):c.1463G>A; p.Arg488Gln
HGVS:
  • NC_000001.11:g.46192174C>T
  • NG_009205.3:g.33132G>A
  • NM_001243766.2:c.1463G>A
  • NM_001290129.2:c.1397G>A
  • NM_001290130.2:c.1034G>A
  • NM_017739.4:c.1463G>AMANE SELECT
  • NP_001230695.2:p.Arg488Gln
  • NP_001277058.2:p.Arg466Gln
  • NP_001277059.2:p.Arg345Gln
  • NP_060209.3:p.Arg488Gln
  • NP_060209.4:p.Arg488Gln
  • LRG_701t1:c.1463G>A
  • LRG_701t2:c.1463G>A
  • LRG_701:g.33132G>A
  • LRG_701p1:p.Arg488Gln
  • LRG_701p2:p.Arg488Gln
  • NC_000001.10:g.46657846C>T
  • NG_009205.2:g.33132G>A
  • NM_017739.3:c.1463G>A
Protein change:
R345Q
Links:
dbSNP: rs766382416
NCBI 1000 Genomes Browser:
rs766382416
Molecular consequence:
  • NM_001243766.2:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290129.2:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290130.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017739.4:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132274Counsyl
no assertion criteria provided
Uncertain significance
(Nov 2, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV001132274.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024