NM_002658.6(PLAU):c.1234G>C (p.Val412Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV004511677.1

Allele description [Variation Report for NM_002658.6(PLAU):c.1234G>C (p.Val412Leu)]

NM_002658.6(PLAU):c.1234G>C (p.Val412Leu)

Genes:

C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_002658.6(PLAU):c.1234G>C (p.Val412Leu)

HGVS:

NC_000010.11:g.73916503G>C
NG_011904.1:g.10400G>C
NM_001145031.3:c.1183G>C
NM_001319191.2:c.976G>C
NM_002658.6:c.1234G>CMANE SELECT
NP_001138503.1:p.Val395Leu
NP_001138503.2:p.Val395Leu
NP_001306120.2:p.Val326Leu
NP_002649.1:p.Val412Leu
NP_002649.2:p.Val412Leu
LRG_593t1:c.1234G>C
LRG_593t2:c.1183G>C
LRG_593:g.10400G>C
LRG_593p1:p.Val412Leu
LRG_593p2:p.Val395Leu
NC_000010.10:g.75676261G>C
NM_001145031.1:c.1183G>C
NM_002658.3:c.1234G>C

Protein change:

V326L

Molecular consequence:

NM_001145031.3:c.1183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001319191.2:c.976G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002658.6:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus G protein-coupled receptor 141, mRNA (cDNA clone MGC:159288 IMAGE:4...
Mus musculus G protein-coupled receptor 141, mRNA (cDNA clone MGC:159288 IMAGE:40130100), complete cds
gi|116138372|gb|BC125585.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005006383	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005006383

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 23, 2024)

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, SCV005006383.1

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

Description

The c.1234G>C (p.V412L) alteration is located in exon 11 (coding exon 10) of the PLAU gene. This alteration results from a G to C substitution at nucleotide position 1234, causing the valine (V) at amino acid position 412 to be replaced by a leucine (L). 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: May 7, 2024

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