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NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV004321352.1

Allele description [Variation Report for NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser)]

NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser)

Gene:
PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.2
Genomic location:
Preferred name:
NM_000922.4(PDE3B):c.608G>C (p.Cys203Ser)
HGVS:
  • NC_000011.10:g.14644683G>C
  • NM_000922.4:c.608G>CMANE SELECT
  • NM_001363569.2:c.608G>C
  • NM_001363570.2:c.608G>C
  • NP_000913.2:p.Cys203Ser
  • NP_001350498.1:p.Cys203Ser
  • NP_001350499.1:p.Cys203Ser
  • NC_000011.9:g.14666229G>C
  • NM_000922.3:c.608G>C
Protein change:
C203S
Molecular consequence:
  • NM_000922.4:c.608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363569.2:c.608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363570.2:c.608G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003977729Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 2023) 		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 Ambry Genetics, SCV003977729.2

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

Description

The c.608G>C (p.C203S) alteration is located in exon 1 (coding exon 1) of the PDE3B gene. This alteration results from a G to C substitution at nucleotide position 608, causing the cysteine (C) at amino acid position 203 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024