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NM_019023.5(PRMT7):c.457dup (p.Glu153fs) AND Short stature-brachydactyly-obesity-global developmental delay syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001806400.2

Allele description [Variation Report for NM_019023.5(PRMT7):c.457dup (p.Glu153fs)]

NM_019023.5(PRMT7):c.457dup (p.Glu153fs)

Gene:
PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_019023.5(PRMT7):c.457dup (p.Glu153fs)
HGVS:
  • NC_000016.10:g.68337524dup
  • NG_054896.1:g.31551dup
  • NM_001184824.4:c.307dup
  • NM_001290018.2:c.457dup
  • NM_001351143.3:c.457dup
  • NM_001351144.3:c.457dup
  • NM_001378018.1:c.457dup
  • NM_001378020.1:c.250dup
  • NM_001378021.1:c.220dup
  • NM_001378022.1:c.220dup
  • NM_001378023.1:c.220dup
  • NM_019023.5:c.457dupMANE SELECT
  • NP_001171753.1:p.Glu103fs
  • NP_001276947.1:p.Glu153fs
  • NP_001338072.1:p.Glu153fs
  • NP_001338073.1:p.Glu153fs
  • NP_001364947.1:p.Glu153fs
  • NP_001364949.1:p.Glu84fs
  • NP_001364950.1:p.Glu74fs
  • NP_001364951.1:p.Glu74fs
  • NP_001364952.1:p.Glu74fs
  • NP_061896.1:p.Glu153fs
  • NC_000016.9:g.68371427dup
  • NM_019023.3:c.457dup
  • NR_147056.3:n.621dup
  • NR_147057.3:n.756dup
  • NR_147058.3:n.756dup
  • NR_165365.1:n.756dup
  • NR_165366.1:n.621dup
  • NR_165367.1:n.621dup
  • NR_165368.1:n.719dup
  • NR_165369.1:n.584dup
  • NR_165370.1:n.584dup
  • NR_165371.1:n.647dup
  • NR_165372.1:n.756dup
  • NR_165373.1:n.719dup
Protein change:
E103fs
Links:
dbSNP: rs2151701931
NCBI 1000 Genomes Browser:
rs2151701931
Molecular consequence:
  • NM_001184824.4:c.307dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001290018.2:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351143.3:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351144.3:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378018.1:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378020.1:c.250dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378021.1:c.220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378022.1:c.220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378023.1:c.220dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_019023.5:c.457dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_147056.3:n.621dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147057.3:n.756dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147058.3:n.756dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165365.1:n.756dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165366.1:n.621dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165367.1:n.621dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165368.1:n.719dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165369.1:n.584dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165370.1:n.584dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165371.1:n.647dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165372.1:n.756dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165373.1:n.719dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Short stature-brachydactyly-obesity-global developmental delay syndrome
Synonyms:
Short stature, brachydactyly, intellectual developmental disability, and seizures; SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
Identifiers:
MONDO: MONDO:0014944; MedGen: C4310689; OMIM: 617157

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002053968Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot 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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002053968.1

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

Last Updated: Dec 24, 2023