NM_001330564.2(ZC3H13):c.2969A>C (p.Gln990Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 22, 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:: RCV004115939.1

Allele description [Variation Report for NM_001330564.2(ZC3H13):c.2969A>C (p.Gln990Pro)]

NM_001330564.2(ZC3H13):c.2969A>C (p.Gln990Pro)

Gene:

ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.13

Genomic location:

Preferred name:

NM_001330564.2(ZC3H13):c.2969A>C (p.Gln990Pro)

HGVS:

NC_000013.11:g.45969575T>G
NM_001076788.2:c.2969A>C
NM_001330564.2:c.2969A>CMANE SELECT
NM_001330565.2:c.2969A>C
NM_001330566.2:c.2969A>C
NM_001330567.2:c.2969A>C
NM_001382206.1:c.2969A>C
NM_001382207.1:c.2969A>C
NM_001382208.1:c.2969A>C
NM_001382209.1:c.2969A>C
NM_001382210.1:c.2969A>C
NM_001382211.1:c.3053A>C
NM_001382212.1:c.3053A>C
NM_001382213.1:c.3053A>C
NM_001382214.1:c.2468A>C
NM_015070.6:c.2969A>C
NP_001070256.1:p.Gln990Pro
NP_001317493.1:p.Gln990Pro
NP_001317494.1:p.Gln990Pro
NP_001317495.1:p.Gln990Pro
NP_001317496.1:p.Gln990Pro
NP_001369135.1:p.Gln990Pro
NP_001369136.1:p.Gln990Pro
NP_001369137.1:p.Gln990Pro
NP_001369138.1:p.Gln990Pro
NP_001369139.1:p.Gln990Pro
NP_001369140.1:p.Gln1018Pro
NP_001369141.1:p.Gln1018Pro
NP_001369142.1:p.Gln1018Pro
NP_001369143.1:p.Gln823Pro
NP_055885.3:p.Gln990Pro
NC_000013.10:g.46543710T>G
NM_015070.3:c.2969A>C
NR_167893.1:n.5159A>C

Protein change:

Q1018P

Molecular consequence:

NM_001076788.2:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330564.2:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330565.2:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330566.2:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330567.2:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382206.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382207.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382208.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382209.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382210.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382211.1:c.3053A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382212.1:c.3053A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382213.1:c.3053A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001382214.1:c.2468A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015070.6:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_167893.1:n.5159A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003594717	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003594717

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 22, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003594717.2

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

Description

The c.2969A>C (p.Q990P) alteration is located in exon 14 (coding exon 13) of the ZC3H13 gene. This alteration results from a A to C substitution at nucleotide position 2969, causing the glutamine (Q) at amino acid position 990 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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