NM_004571.5(PKNOX1):c.1276G>A (p.Gly426Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 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:: RCV004356217.1

Allele description [Variation Report for NM_004571.5(PKNOX1):c.1276G>A (p.Gly426Arg)]

NM_004571.5(PKNOX1):c.1276G>A (p.Gly426Arg)

Gene:

PKNOX1:PBX/knotted 1 homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_004571.5(PKNOX1):c.1276G>A (p.Gly426Arg)

HGVS:

NC_000021.9:g.43030066G>A
NM_001286258.2:c.925G>A
NM_001320694.2:c.1273G>A
NM_004571.5:c.1276G>AMANE SELECT
NP_001273187.1:p.Gly309Arg
NP_001307623.1:p.Gly425Arg
NP_004562.2:p.Gly426Arg
NC_000021.8:g.44450176G>A
NM_004571.3:c.1276G>A

Protein change:

G309R

Molecular consequence:

NM_001286258.2:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320694.2:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004571.5:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome b (mitochondrion) [Microcebus murinus]
cytochrome b (mitochondrion) [Microcebus murinus]
gi|11119704|gb|AAG30708.1|

Protein
cytochrome b (mitochondrion) [Microcebus sambiranensis]
cytochrome b (mitochondrion) [Microcebus sambiranensis]
gi|11119690|gb|AAG30701.1|

Protein
uncharacterized protein VDAG_00047 [Verticillium dahliae VdLs.17]
uncharacterized protein VDAG_00047 [Verticillium dahliae VdLs.17]
gi|697069071|ref|XP_009649719.1|

Protein
MULTISPECIES: IreB family regulatory phosphoprotein [Streptococcus]
MULTISPECIES: IreB family regulatory phosphoprotein [Streptococcus]
gi|488983274|ref|WP_002894075.1|

Protein
MULTISPECIES: 50S ribosomal protein L35 [Streptococcus]
MULTISPECIES: 50S ribosomal protein L35 [Streptococcus]
gi|488984245|ref|WP_002895038.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004083201	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004083201

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 19, 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, SCV004083201.2

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

Description

The c.1276G>A (p.G426R) alteration is located in exon 11 (coding exon 10) of the PKNOX1 gene. This alteration results from a G to A substitution at nucleotide position 1276, causing the glycine (G) at amino acid position 426 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: Nov 10, 2024

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