NM_017652.4(ZNF586):c.1055A>G (p.Lys352Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 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:: RCV004113447.1

Allele description [Variation Report for NM_017652.4(ZNF586):c.1055A>G (p.Lys352Arg)]

NM_017652.4(ZNF586):c.1055A>G (p.Lys352Arg)

Gene:

ZNF586:zinc finger protein 586 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.43

Genomic location:

Preferred name:

NM_017652.4(ZNF586):c.1055A>G (p.Lys352Arg)

HGVS:

NC_000019.10:g.57779642A>G
NM_001077426.3:c.*295A>G
NM_001204814.2:c.926A>G
NM_017652.4:c.1055A>GMANE SELECT
NP_001191743.1:p.Lys309Arg
NP_060122.2:p.Lys352Arg
NC_000019.9:g.58291010A>G
NM_017652.3:c.1055A>G

Protein change:

K309R

Molecular consequence:

NM_001077426.3:c.*295A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001204814.2:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_017652.4:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

PREDICTED: Mus musculus AKT interacting protein (Aktip), transcript variant X3, ...
PREDICTED: Mus musculus AKT interacting protein (Aktip), transcript variant X3, mRNA
gi|1907187260|ref|XM_011248306.4|

Nucleotide
AKT-interacting protein isoform X1 [Mus musculus]
AKT-interacting protein isoform X1 [Mus musculus]
gi|755526419|ref|XP_011246608.1|

Protein
Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), t...
Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), transcript variant 3, non-coding RNA
gi|528881439|ref|NR_104041.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003581083	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 16, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003581083

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 16, 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, SCV003581083.2

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

Description

The c.1055A>G (p.K352R) alteration is located in exon 3 (coding exon 3) of the ZNF586 gene. This alteration results from a A to G substitution at nucleotide position 1055, causing the lysine (K) at amino acid position 352 to be replaced by an arginine (R). 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: Oct 26, 2024

ClinVar

Relating variation to medicine