NM_022045.5(MTBP):c.2158G>A (p.Gly720Arg) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 21, 2018
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:: RCV000905202.4

Allele description [Variation Report for NM_022045.5(MTBP):c.2158G>A (p.Gly720Arg)]

NM_022045.5(MTBP):c.2158G>A (p.Gly720Arg)

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.2158G>A (p.Gly720Arg)

HGVS:

NC_000008.11:g.120516103G>A
NG_033151.1:g.75706G>A
NM_022045.5:c.2158G>AMANE SELECT
NP_071328.2:p.Gly720Arg
NC_000008.10:g.121528343G>A
NM_022045.4:c.2158G>A

Protein change:

G720R

Links:

dbSNP: rs139197322

NCBI 1000 Genomes Browser:

rs139197322

Molecular consequence:

NM_022045.5:c.2158G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001049772	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (May 21, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001049772

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(May 21, 2018)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001049772.1

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

#	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: Sep 29, 2024

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