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NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 25, 2021
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:
RCV001789218.2

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)]

NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)

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.1867A>G (p.Met623Val)
HGVS:
  • NC_000001.11:g.46189486T>C
  • NG_009205.3:g.35820A>G
  • NM_001243766.2:c.1867A>G
  • NM_001290129.2:c.1801A>G
  • NM_001290130.2:c.1438A>G
  • NM_017739.4:c.1867A>GMANE SELECT
  • NP_001230695.2:p.Met623Val
  • NP_001277058.2:p.Met601Val
  • NP_001277059.2:p.Met480Val
  • NP_060209.4:p.Met623Val
  • LRG_701t1:c.1867A>G
  • LRG_701t2:c.1867A>G
  • LRG_701:g.35820A>G
  • LRG_701p1:p.Met623Val
  • LRG_701p2:p.Met623Val
  • NC_000001.10:g.46655158T>C
  • NG_009205.2:g.35820=
  • NP_060209.3:p.Met623Val
Protein change:
M480V
Links:
dbSNP: rs6659553
NCBI 1000 Genomes Browser:
rs6659553
Molecular consequence:
  • NM_001243766.2:c.1867A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290129.2:c.1801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290130.2:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017739.4:c.1867A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV002031721Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Oct 25, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002031721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024