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NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV001825083.1

Allele description [Variation Report for NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)]

NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)

Genes:
PDE11A-AS1:PDE11A antisense RNA 1 [Gene - HGNC]
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)
HGVS:
  • NC_000002.12:g.177701134A>C
  • NG_012168.2:g.412206T>G
  • NM_001077196.2:c.899T>G
  • NM_001077197.2:c.1481T>G
  • NM_001077358.2:c.1157T>G
  • NM_016953.4:c.2231T>GMANE SELECT
  • NP_001070664.1:p.Ile300Ser
  • NP_001070665.1:p.Ile494Ser
  • NP_001070826.1:p.Ile386Ser
  • NP_058649.3:p.Ile744Ser
  • NC_000002.11:g.178565862A>C
  • NM_016953.3:c.2231T>G
  • NR_136171.1:n.288A>C
Protein change:
I300S
Links:
dbSNP: rs776319665
NCBI 1000 Genomes Browser:
rs776319665
Molecular consequence:
  • NM_001077196.2:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077197.2:c.1481T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077358.2:c.1157T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016953.4:c.2231T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136171.1:n.288A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074248Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 13, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002074248.1

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

Description

Variant summary: PDE11A c.2231T>G (p.Ile744Ser) results in a non-conservative amino acid change located in the 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain (IPR002073) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250952 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2231T>G in individuals affected with Pigmented Nodular Adrenocortical Disease, Primary, 2 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Dec 24, 2023