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NM_019023.5(PRMT7):c.282+1G>A AND Short stature-brachydactyly-obesity-global developmental delay syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 29, 2024
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003990839.2

Allele description [Variation Report for NM_019023.5(PRMT7):c.282+1G>A]

NM_019023.5(PRMT7):c.282+1G>A

Gene:
PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_019023.5(PRMT7):c.282+1G>A
HGVS:
  • NC_000016.10:g.68324833G>A
  • NG_054896.1:g.18860G>A
  • NG_054896.2:g.18816G>A
  • NM_001184824.4:c.132+3371G>A
  • NM_001290018.2:c.282+1G>A
  • NM_001351143.3:c.282+1G>A
  • NM_001351144.3:c.282+1G>A
  • NM_001378018.1:c.282+1G>A
  • NM_001378020.1:c.184+1G>A
  • NM_001378021.1:c.45+1G>A
  • NM_001378022.1:c.45+1G>A
  • NM_001378023.1:c.45+1G>A
  • NM_019023.5:c.282+1G>AMANE SELECT
  • NC_000016.9:g.68358736G>A
...more
Molecular consequence:
  • NM_001184824.4:c.132+3371G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001290018.2:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351143.3:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001351144.3:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378018.1:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378020.1:c.184+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378021.1:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378022.1:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378023.1:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_019023.5:c.282+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004807843Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 29, 2024)
germlineclinical testing

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

Last Updated: Aug 4, 2024

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