NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs) AND Abnormality of the nervous system

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 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:
RCV001814327.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs)]

NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs)

Genes:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs)
HGVS:
  • NC_000001.11:g.46189519dup
  • NG_009205.3:g.35787dup
  • NM_001243766.2:c.1834dup
  • NM_001290129.2:c.1768dup
  • NM_001290130.2:c.1405dup
  • NM_017739.4:c.1834dupMANE SELECT
  • NP_001230695.2:p.Trp612fs
  • NP_001277058.2:p.Trp590fs
  • NP_001277059.2:p.Trp469fs
  • NP_060209.4:p.Trp612fs
  • LRG_701t1:c.1834dup
  • LRG_701t2:c.1834dup
  • LRG_701:g.35787dup
  • LRG_701p1:p.Trp612fs
  • LRG_701p2:p.Trp612fs
  • NC_000001.10:g.46655191dup
  • NG_009205.2:g.35787dup
  • NM_001243766.2:c.1834dupT
Protein change:
W469fs
Links:
dbSNP: rs2148163693
NCBI 1000 Genomes Browser:
rs2148163693
Molecular consequence:
  • NM_001243766.2:c.1834dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290129.2:c.1768dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290130.2:c.1405dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017739.4:c.1834dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Abnormality of the nervous system
Synonyms:
Congenital nervous system disorder
Identifiers:
MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755110Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755110.1

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

Last Updated: Dec 24, 2023