NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp) AND Malignant tumor of prostate

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000149328.3

Allele description [Variation Report for NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)]

NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)

Gene:

PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_052909.5(PLEKHG4B):c.2311C>T (p.Arg771Trp)

HGVS:

NC_000005.10:g.156173C>T
NG_054915.1:g.107159C>T
NM_052909.5:c.2311C>TMANE SELECT
NP_443141.4:p.Arg771Trp
NC_000005.9:g.156288C>T
NM_052909.3:c.1243C>T

Protein change:

R771W

Links:

dbSNP: rs193920840

NCBI 1000 Genomes Browser:

rs193920840

Molecular consequence:

NM_052909.5:c.2311C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant tumor of prostate
Synonyms:: Prostate cancer
Identifiers:: MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088970	Science for Life laboratory, Karolinska Institutet	no assertion criteria provided	Unknown	somatic	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000088970

Science for Life laboratory, Karolinska Institutet

no assertion criteria provided

Unknown

somatic

not provided

PubMed (1)
[See all records that cite this PMID]

Description

TumorID:SWE-15: SCV000088970

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	2	not provided	literature only

Citations

PubMed

The mitochondrial and autosomal mutation landscapes of prostate cancer.

Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikström P, Wiklund P, Wiklund F, Egevad L, Grönberg H.

Eur Urol. 2013 Apr;63(4):702-8. doi: 10.1016/j.eururo.2012.11.053. Epub 2012 Dec 5.

PubMed [citation]

PMID:: 23265383

Details of each submission

From Science for Life laboratory, Karolinska Institutet, SCV000088970.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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