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NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter) AND Neurodevelopmental abnormality

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 2022
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:
RCV003126227.1

Allele description [Variation Report for NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)]

NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)

Gene:
PRMT9:protein arginine methyltransferase 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.23
Genomic location:
Preferred name:
NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)
HGVS:
  • NC_000004.12:g.147680442C>T
  • NG_053105.1:g.8789G>A
  • NM_001304458.2:c.-2+3357G>A
  • NM_001350141.2:c.-1077+3357G>A
  • NM_001350142.2:c.-256G>A
  • NM_001350143.2:c.-306+3357G>A
  • NM_001350144.2:c.-882+3357G>A
  • NM_138364.4:c.219G>AMANE SELECT
  • NP_612373.2:p.Trp73Ter
  • NC_000004.11:g.148601593C>T
  • NM_138364.3:c.219G>A
Protein change:
W73*
Molecular consequence:
  • NM_001350142.2:c.-256G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304458.2:c.-2+3357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350141.2:c.-1077+3357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350143.2:c.-306+3357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350144.2:c.-882+3357G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138364.4:c.219G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neurodevelopmental abnormality
Identifiers:
MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002569987Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 2, 2022) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedresearch

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 Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV002569987.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Feb 25, 2023