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NM_017739.4(POMGNT1):c.1895+1G>T AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 23, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV005025105.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1895+1G>T]

NM_017739.4(POMGNT1):c.1895+1G>T

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.1895+1G>T
HGVS:
  • NC_000001.11:g.46189457C>A
  • NG_009205.3:g.35849G>T
  • NM_001243766.2:c.1869+27G>T
  • NM_001290129.2:c.1829+1G>T
  • NM_001290130.2:c.1466+1G>T
  • NM_001410783.1:c.1895+1G>T
  • NM_017739.4:c.1895+1G>TMANE SELECT
  • LRG_701t1:c.1869+27G>T
  • LRG_701t2:c.1895+1G>T
  • LRG_701:g.35849G>T
  • NC_000001.10:g.46655129C>A
  • NM_001290129.1:c.1829+1G>T
  • NM_017739.3:c.1895+1G>T
Links:
dbSNP: rs386834024
NCBI 1000 Genomes Browser:
rs386834024
Molecular consequence:
  • NM_001243766.2:c.1869+27G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290129.2:c.1829+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290130.2:c.1466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001410783.1:c.1895+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017739.4:c.1895+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
Name:
Retinitis pigmentosa 76 (RP76)
Identifiers:
MONDO: MONDO:0014929; MedGen: C4310704; OMIM: 617123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005647625Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 23, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV005647625.1

#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: Mar 11, 2025