NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002227879.1

Allele description [Variation Report for NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)]

NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)

Gene:

ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)

HGVS:

NC_000008.11:g.143538164C>G
NM_015117.3:c.1203G>CMANE SELECT
NP_055932.2:p.Lys401Asn
NC_000008.10:g.144620334C>G

Protein change:

K401N

Links:

dbSNP: rs145312531

NCBI 1000 Genomes Browser:

rs145312531

Molecular consequence:

NM_015117.3:c.1203G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neutropenia
Identifiers:: MONDO: MONDO:0001475; MedGen: C0853697; Human Phenotype Ontology: HP:0001875

Name:: Lymphopenia
Identifiers:: MONDO: MONDO:0003783; MedGen: C0024312; Human Phenotype Ontology: HP:0001888

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002507127	Department of Biosciences, University of Milan	no assertion criteria provided	Likely benign	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002507127

Department of Biosciences, University of Milan

no assertion criteria provided

Likely benign

maternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	1	not provided	not provided	not provided	research

Details of each submission

From Department of Biosciences, University of Milan, SCV002507127.1

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

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

Last Updated: Oct 20, 2024

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