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NM_000924.4(PDE1B):c.735+5G>A AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2023
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:
RCV003311593.1

Allele description [Variation Report for NM_000924.4(PDE1B):c.735+5G>A]

NM_000924.4(PDE1B):c.735+5G>A

Gene:
PDE1B:phosphodiesterase 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_000924.4(PDE1B):c.735+5G>A
HGVS:
  • NC_000012.12:g.54572746G>A
  • NG_029621.1:g.28354G>A
  • NM_000924.4:c.735+5G>AMANE SELECT
  • NM_001165975.3:c.675+5G>A
  • NM_001288768.2:c.324+5G>A
  • NM_001288769.2:c.612+5G>A
  • NM_001315534.2:c.324+5G>A
  • NM_001315535.2:c.123+5G>A
  • NC_000012.11:g.54966530G>A
Molecular consequence:
  • NM_000924.4:c.735+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001165975.3:c.675+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288768.2:c.324+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288769.2:c.612+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001315534.2:c.324+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001315535.2:c.123+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Intellectual disability, moderate
Synonyms:
Moderae intellectual disability
Identifiers:
MedGen: C0026351; Human Phenotype Ontology: HP:0002342
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004009645HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 20, 2023) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot provided1not 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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV004009645.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 16, 2023