NM_001111.5(ADAR):c.2668+6T>C AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Jun 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000859489.27

Allele description [Variation Report for NM_001111.5(ADAR):c.2668+6T>C]

NM_001111.5(ADAR):c.2668+6T>C

Genes:

LOC126805874:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 [Gene]
ADAR:adenosine deaminase RNA specific [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_001111.5(ADAR):c.2668+6T>C

HGVS:

NC_000001.11:g.154589751A>G
NG_011844.2:g.46810T>C
NM_001025107.3:c.1783+6T>C
NM_001111.5:c.2668+6T>CMANE SELECT
NM_001193495.2:c.1783+6T>C
NM_001365045.1:c.2695+6T>C
NM_001365046.1:c.1783+6T>C
NM_001365047.1:c.1783+6T>C
NM_001365048.1:c.1783+6T>C
NM_001365049.1:c.1705+6T>C
NM_015840.4:c.2590+6T>C
NM_015841.4:c.2533+6T>C
LRG_1212t1:c.2668+6T>C
LRG_1212:g.46810T>C
NC_000001.10:g.154562227A>G
NG_011844.1:g.43211T>C
NM_001111.4:c.2668+6T>C

Links:

dbSNP: rs190881240

NCBI 1000 Genomes Browser:

rs190881240

Molecular consequence:

NM_001025107.3:c.1783+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001111.5:c.2668+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001193495.2:c.1783+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001365045.1:c.2695+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001365046.1:c.1783+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001365047.1:c.1783+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001365048.1:c.1783+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001365049.1:c.1705+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_015840.4:c.2590+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_015841.4:c.2533+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus RIKEN cDNA 1110032A03 gene (1110032A03Rik), mRNA
Mus musculus RIKEN cDNA 1110032A03 gene (1110032A03Rik), mRNA
gi|31560115|ref|NM_023483.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001147434	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2023)	germline	clinical testing	Citation Link,
SCV001792083	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 10, 2020)	germline	clinical testing	Citation Link,
SCV001931669	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001965417	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001147434.27

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

ADAR: BP4, BS2

#	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		3	not provided	not provided	not provided

From GeneDx, SCV001792083.1

#	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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931669.1

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965417.1

#	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 20, 2024

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