NM_022045.5(MTBP):c.2120C>G (p.Ser707Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 27, 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:: RCV004146128.1

Allele description [Variation Report for NM_022045.5(MTBP):c.2120C>G (p.Ser707Cys)]

NM_022045.5(MTBP):c.2120C>G (p.Ser707Cys)

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.2120C>G (p.Ser707Cys)

HGVS:

NC_000008.11:g.120516065C>G
NG_033151.1:g.75668C>G
NM_022045.5:c.2120C>GMANE SELECT
NP_071328.2:p.Ser707Cys
NC_000008.10:g.121528305C>G
NM_022045.3:c.2120C>G

Protein change:

S707C

Molecular consequence:

NM_022045.5:c.2120C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Oryza rufipogon strain H08 chromosome 1 marker STS120 genomic sequence, sequence...
Oryza rufipogon strain H08 chromosome 1 marker STS120 genomic sequence, sequence tagged site
gi|169880440|gb|EF010034.1|

Nucleotide
PREDICTED: Rattus norvegicus ATP binding cassette subfamily C member 8 (Abcc8), ...
PREDICTED: Rattus norvegicus ATP binding cassette subfamily C member 8 (Abcc8), transcript variant X3, mRNA
gi|2678863646|ref|XM_063281905.1|

Nucleotide
Chrozophora tinctoria internal transcribed spacer 1, partial sequence; 5.8S ribo...
Chrozophora tinctoria internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1893063139|gb|MT894297.1|

Nucleotide
Clitellates
Clitellates
Clitellate transcriptomes

BioProject
thioredoxin reductase 2 intronic transcript 1 [Homo sapiens]
thioredoxin reductase 2 intronic transcript 1 [Homo sapiens]
gi|49614759|dbj|BAD26752.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003620120	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003620120

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 27, 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, SCV003620120.2

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

Description

The c.2120C>G (p.S707C) alteration is located in exon 18 (coding exon 18) of the MTBP gene. This alteration results from a C to G substitution at nucleotide position 2120, causing the serine (S) at amino acid position 707 to be replaced by a cysteine (C). 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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