NM_022045.5(MTBP):c.2380A>G (p.Ile794Val) 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:: RCV000149290.3

Allele description [Variation Report for NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)]

NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)

Gene:

MTBP:MDM2 binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.12

Genomic location:

Preferred name:

NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)

HGVS:

NC_000008.11:g.120517984A>G
NG_033151.1:g.77587A>G
NM_022045.5:c.2380A>GMANE SELECT
NP_071328.2:p.Ile794Val
NC_000008.10:g.121530224A>G
NM_022045.3:c.2380A>G

Protein change:

I794V

Links:

dbSNP: rs193921136

NCBI 1000 Genomes Browser:

rs193921136

Molecular consequence:

NM_022045.5:c.2380A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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PREDICTED: Cucurbita maxima plant UBX domain-containing protein 4 (LOC111484096)...
PREDICTED: Cucurbita maxima plant UBX domain-containing protein 4 (LOC111484096), mRNA
gi|1281004806|ref|XM_023130545.1|

Nucleotide
LOC18789459 [Prunus persica]
LOC18789459 [Prunus persica]
Gene ID:18789459

Gene
vacuolar protein sorting-associated protein 9A-like [Benincasa hispida]
vacuolar protein sorting-associated protein 9A-like [Benincasa hispida]
gi|1955837227|ref|XP_038874663.1|

Protein
C0346153[trait identifier] AND "Undiagnosed Diseases Network, NIH... (3)
C0346153[trait identifier] AND "Undiagnosed Diseases Network, NIH"[submitter]
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C4539927[trait identifier] AND "Undiagnosed Diseases Network, NIH... (1)
C4539927[trait identifier] AND "Undiagnosed Diseases Network, NIH"[submitter]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088932	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

SCV000088932

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-92B: SCV000088932

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	1	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, SCV000088932.1

#	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	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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