NM_018491.5(ZNG1A):c.985G>A (p.Val329Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV004251871.1

Allele description [Variation Report for NM_018491.5(ZNG1A):c.985G>A (p.Val329Met)]

NM_018491.5(ZNG1A):c.985G>A (p.Val329Met)

Gene:

ZNG1A:Zn regulated GTPase metalloprotein activator 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

Preferred name:

NM_018491.5(ZNG1A):c.985G>A (p.Val329Met)

HGVS:

NC_000009.12:g.122057C>T
NG_032165.1:g.1361G>A
NM_001145355.2:c.877G>A
NM_001145356.2:c.928G>A
NM_001399798.1:c.616G>A
NM_001399799.1:c.775G>A
NM_001399800.1:c.736G>A
NM_001399801.1:c.541G>A
NM_001399802.1:c.820G>A
NM_001399803.1:c.832G>A
NM_001399804.1:c.460G>A
NM_001399805.1:c.895-484G>A
NM_001399807.1:c.925G>A
NM_001399808.1:c.898G>A
NM_001399809.1:c.952-484G>A
NM_018491.5:c.985G>AMANE SELECT
NP_001138827.1:p.Val293Met
NP_001138828.1:p.Val310Met
NP_001386727.1:p.Val206Met
NP_001386728.1:p.Val259Met
NP_001386729.1:p.Val246Met
NP_001386730.1:p.Val181Met
NP_001386731.1:p.Val274Met
NP_001386732.1:p.Val278Met
NP_001386733.1:p.Val154Met
NP_001386736.1:p.Val309Met
NP_001386737.1:p.Val300Met
NP_060961.3:p.Val329Met
LRG_452:g.1361G>A
NC_000009.11:g.122057C>T
NM_018491.3:c.985G>A
NR_174353.1:n.1123G>A
NR_174355.1:n.983G>A
NR_174356.1:n.1212G>A
NR_174358.1:n.1293G>A
NR_174359.1:n.1179G>A
NR_174360.1:n.1195G>A

Protein change:

V154M

Molecular consequence:

NM_001399805.1:c.895-484G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001399809.1:c.952-484G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001145355.2:c.877G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145356.2:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399798.1:c.616G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399799.1:c.775G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399800.1:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399801.1:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399802.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399803.1:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399804.1:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399807.1:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399808.1:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018491.5:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_174353.1:n.1123G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174355.1:n.983G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174356.1:n.1212G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174358.1:n.1293G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174359.1:n.1179G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174360.1:n.1195G>A - 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
SCV003877767	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003877767

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 2023)

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, SCV003877767.2

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

Description

The c.985G>A (p.V329M) alteration is located in exon 14 (coding exon 14) of the CBWD1 gene. This alteration results from a G to A substitution at nucleotide position 985, causing the valine (V) at amino acid position 329 to be replaced by a methionine (M). 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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