NC_000020.11:g.13784708G>T AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 26, 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:: RCV001590561.3

Allele description [Variation Report for NC_000020.11:g.13784708G>T]

NC_000020.11:g.13784708G>T

Genes:

NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
ESF1:ESF1 nucleolar pre-rRNA processing protein homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.1

Genomic location:

Preferred name:

NC_000020.11:g.13784708G>T

HGVS:

NC_000020.11:g.13784708G>T
NG_015811.1:g.4683G>T
NM_001276380.2:c.-44+172C>AMANE SELECT
NM_016649.4:c.-44+114C>A
NC_000020.10:g.13765354G>T

Links:

dbSNP: rs77324418

NCBI 1000 Genomes Browser:

rs77324418

Molecular consequence:

NM_001276380.2:c.-44+172C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_016649.4:c.-44+114C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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polysaccharide biosynthesis protein [Novosphingobium lentum]
polysaccharide biosynthesis protein [Novosphingobium lentum]
gi|1839445933|ref|WP_169799557.1|

Protein
Mus musculus SH3-binding kinase 1 (Sbk1), transcript variant 3, mRNA
Mus musculus SH3-binding kinase 1 (Sbk1), transcript variant 3, mRNA
gi|2214681172|ref|NM_001403562.1|

Nucleotide
PREDICTED: Mus musculus mitogen-activated protein kinase kinase kinase 13 (Map3k...
PREDICTED: Mus musculus mitogen-activated protein kinase kinase kinase 13 (Map3k13), transcript variant X3, mRNA
gi|1907119700|ref|XM_011246015.3|

Nucleotide
Mus musculus BAC clone RP23-353F16 from chromosome 7, complete sequence
Mus musculus BAC clone RP23-353F16 from chromosome 7, complete sequence
gi|47777610|gb|AC135809.4||gnl|wugs 3-353F16

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001825683	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001825683

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 26, 2018)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001825683.1

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

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

Last Updated: Oct 8, 2024

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