NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val) AND Acrodysostosis 2 with or without hormone resistance

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 2021
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:: RCV003134778.3

Allele description [Variation Report for NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)]

NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)

Gene:

PDE4D:phosphodiesterase 4D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)

HGVS:

NC_000005.10:g.58993390T>C
NG_027957.2:g.1535940A>G
NM_001104631.2:c.997A>GMANE SELECT
NM_001165899.2:c.814A>G
NM_001197218.2:c.805A>G
NM_001197219.2:c.631A>G
NM_001197220.2:c.607A>G
NM_001197221.2:c.91A>G
NM_001197222.2:c.325A>G
NM_001197223.2:c.124A>G
NM_001349241.2:c.784A>G
NM_001349242.2:c.667A>G
NM_001349243.2:c.229A>G
NM_001364599.1:c.814A>G
NM_001364603.1:c.91A>G
NM_001364604.1:c.229A>G
NM_006203.5:c.589A>G
NP_001098101.1:p.Ile333Val
NP_001159371.1:p.Ile272Val
NP_001184147.1:p.Ile269Val
NP_001184148.1:p.Ile211Val
NP_001184149.1:p.Ile203Val
NP_001184150.1:p.Ile31Val
NP_001184151.1:p.Ile109Val
NP_001184152.1:p.Ile42Val
NP_001336170.1:p.Ile262Val
NP_001336171.1:p.Ile223Val
NP_001336172.1:p.Ile77Val
NP_001351528.1:p.Ile272Val
NP_001351532.1:p.Ile31Val
NP_001351533.1:p.Ile77Val
NP_006194.2:p.Ile197Val
NC_000005.9:g.58289217T>C
NM_001104631.1:c.997A>G

Protein change:

I109V

Molecular consequence:

NM_001104631.2:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165899.2:c.814A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197218.2:c.805A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197219.2:c.631A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197220.2:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197221.2:c.91A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197222.2:c.325A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001197223.2:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349241.2:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349242.2:c.667A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349243.2:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364599.1:c.814A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364603.1:c.91A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364604.1:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006203.5:c.589A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acrodysostosis 2 with or without hormone resistance
Synonyms:: ACRODYSOSTOSIS 2 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 2 WITHOUT HORMONE RESISTANCE
Identifiers:: MONDO: MONDO:0013822; MedGen: C3553250; Orphanet: 280651; OMIM: 614613

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003814787	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003814787

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 10, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Revvity Omics, Revvity, SCV003814787.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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