NM_016492.5(RANGRF):c.194+1G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2016
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:: RCV000215940.10

Allele description [Variation Report for NM_016492.5(RANGRF):c.194+1G>A]

NM_016492.5(RANGRF):c.194+1G>A

Genes:

RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_016492.5(RANGRF):c.194+1G>A

HGVS:

NC_000017.11:g.8289073G>A
NG_028189.1:g.5423G>A
NG_194662.1:g.251G>A
NG_194663.1:g.51G>A
NM_001177801.2:c.194+1G>A
NM_001177802.2:c.194+1G>A
NM_001320871.2:c.*42+501C>T
NM_001320872.2:c.*410C>T
NM_001330127.2:c.194+1G>A
NM_016492.5:c.194+1G>AMANE SELECT
NM_201520.3:c.*543C>T
NC_000017.10:g.8192391G>A
NM_016492.4:c.194+1G>A
NR_135483.2:n.2088C>T
NR_135484.2:n.1924C>T

Links:

dbSNP: rs876661169

NCBI 1000 Genomes Browser:

rs876661169

Molecular consequence:

NM_001320872.2:c.*410C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_201520.3:c.*543C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320871.2:c.*42+501C>T - intron variant - [Sequence Ontology: SO:0001627]
NR_135483.2:n.2088C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135484.2:n.1924C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001177801.2:c.194+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001177802.2:c.194+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001330127.2:c.194+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_016492.5:c.194+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens uncharacterized LOC100507634 (LOC100507634), long non-coding RNA
Homo sapiens uncharacterized LOC100507634 (LOC100507634), long non-coding RNA
gi|334085261|ref|NR_038320.1|

Nucleotide
Iris,Dorsal,4dpl,Rep2 [D4_Dorsal_2]
Iris,Dorsal,4dpl,Rep2 [D4_Dorsal_2]

biosample
Bacteroides intestinalis isolate:Bacteroides intestinalis TSDC20.2-1.2
Bacteroides intestinalis isolate:Bacteroides intestinalis TSDC20.2-1.2
Strain Bacteroides intestinalis TSDC20.2-1.2 (species Bacteroides intestinalis) was isolated from the fecal microbiota of a USA female at time point zero (bacterial isolates were sequenced from this donor on day 0 and 57). The species name was assigned by genome clustering.

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279704	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 26, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279704

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 26, 2016)

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, SCV000279704.9

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

Description

The c.194+1G>A variant in the RANGRF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.194+1G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.194+1G>A as a variant of uncertain significance.

#	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: Nov 10, 2024

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