NM_022045.5(MTBP):c.2497A>T (p.Ile833Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 26, 2022
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:: RCV004101428.1

Allele description [Variation Report for NM_022045.5(MTBP):c.2497A>T (p.Ile833Leu)]

NM_022045.5(MTBP):c.2497A>T (p.Ile833Leu)

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.2497A>T (p.Ile833Leu)

HGVS:

NC_000008.11:g.120518704A>T
NG_033151.1:g.78307A>T
NM_022045.5:c.2497A>TMANE SELECT
NP_071328.2:p.Ile833Leu
NC_000008.10:g.121530944A>T
NM_022045.3:c.2497A>T

Protein change:

I833L

Molecular consequence:

NM_022045.5:c.2497A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Mus musculus Ral GEF with PH domain and SH3 binding motif 2 (Ralgps2)...
PREDICTED: Mus musculus Ral GEF with PH domain and SH3 binding motif 2 (Ralgps2), transcript variant X5, mRNA
gi|1907070716|ref|XM_006497032.5|

Nucleotide
ras-specific guanine nucleotide-releasing factor RalGPS2 isoform d [Mus musculus...
ras-specific guanine nucleotide-releasing factor RalGPS2 isoform d [Mus musculus]
gi|1270111328|ref|NP_001344320.1|

Protein
Model organism or animal sample from Bos indicus
Model organism or animal sample from Bos indicus

biosample
LOC127815949 [Homo sapiens]
LOC127815949 [Homo sapiens]
Gene ID:127815949

Gene
LOC123620100 [Homo sapiens]
LOC123620100 [Homo sapiens]
Gene ID:123620100

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003569619	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003569619

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 26, 2022)

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, SCV003569619.2

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

Description

The c.2497A>T (p.I833L) alteration is located in exon 20 (coding exon 20) of the MTBP gene. This alteration results from a A to T substitution at nucleotide position 2497, causing the isoleucine (I) at amino acid position 833 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: Nov 10, 2024

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