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NM_016953.4(PDE11A):c.1936-2A>T AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2016
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:
RCV000478741.1

Allele description [Variation Report for NM_016953.4(PDE11A):c.1936-2A>T]

NM_016953.4(PDE11A):c.1936-2A>T

Gene:
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_016953.4(PDE11A):c.1936-2A>T
HGVS:
  • NC_000002.12:g.177727767T>A
  • NG_012168.2:g.385573A>T
  • NM_001077196.2:c.604-2A>T
  • NM_001077197.2:c.1186-2A>T
  • NM_001077358.2:c.862-2A>T
  • NM_016953.4:c.1936-2A>TMANE SELECT
  • NC_000002.11:g.178592495T>A
  • NM_016953.3:c.1936-2A>T
Links:
dbSNP: rs1064795513
NCBI 1000 Genomes Browser:
rs1064795513
Molecular consequence:
  • NM_001077196.2:c.604-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001077197.2:c.1186-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001077358.2:c.862-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_016953.4:c.1936-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000571392GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 24, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000571392.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1936-2A>T variant in the PDE11A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 11, which is predicted to cause abnormal gene splicing. The c.1936-2A>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1936-2A>T variant is a strong candidate for a pathogenic variant, however, the possibility it may be a rare benign variant cannot be excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023