NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 22, 2019
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:: RCV001766772.2

Allele description [Variation Report for NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)]

NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)

Genes:

ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q23.1

Genomic location:

Preferred name:

NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)

HGVS:

NC_000008.11:g.105788864A>G
NG_011723.2:g.474946A>G
NM_001362836.2:c.520A>G
NM_001362837.2:c.283A>G
NM_012082.4:c.679A>GMANE SELECT
NP_001349765.1:p.Ile174Val
NP_001349766.1:p.Ile95Val
NP_036214.2:p.Ile227Val
NC_000008.10:g.106801092A>G
NC_000008.10:g.106801092A>G
NG_011723.1:g.474946A>G
NM_012082.3:c.679A>G

Protein change:

I174V

Links:

dbSNP: rs202204708

NCBI 1000 Genomes Browser:

rs202204708

Molecular consequence:

NM_001362836.2:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001362837.2:c.283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012082.4:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002008892	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 22, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002008892

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 22, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002008892.2

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

Description

Report in published literature in an individual with sporadic double outlet right ventricle who had panel-based testing; familial segregation studies were not performed (DeLuca et al., 2011); Reported in published literature in two unrelated patients with congenital diaphragmatic hernia who had exome sequencing; variant was inherited from an unaffected father in both patients (Longoni et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25025186, 20807224, 21919901, 24702427)

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

Last Updated: Oct 13, 2024

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