NM_005045.4(RELN):c.1290-3dup AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 17, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000081222.10

Allele description [Variation Report for NM_005045.4(RELN):c.1290-3dup]

NM_005045.4(RELN):c.1290-3dup

Genes:

LOC126860131:MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 [Gene]
RELN:reelin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_005045.4(RELN):c.1290-3dup

HGVS:

NC_000007.14:g.103661538dup
NG_011877.2:g.332987dup
NM_005045.4:c.1290-3dupMANE SELECT
NM_173054.3:c.1290-3dup
NC_000007.13:g.103301976_103301977insA
NC_000007.13:g.103301985dup
NM_005045.3:c.1290-3_1290-2insT
NM_005045.3:c.1290-3dup
NM_005045.3:c.1290-3dupT

Links:

dbSNP: rs146986040

NCBI 1000 Genomes Browser:

rs146986040

Molecular consequence:

NM_005045.4:c.1290-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_173054.3:c.1290-3dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

MULTISPECIES: toxin [Lysinibacillus]
MULTISPECIES: toxin [Lysinibacillus]
gi|501248773|ref|WP_012291791.1|

Protein
Homo sapiens TNF alpha induced protein 8 like 1 (TNFAIP8L1), transcript variant ...
Homo sapiens TNF alpha induced protein 8 like 1 (TNFAIP8L1), transcript variant 2, mRNA
gi|1519314858|ref|NM_152362.3|

Nucleotide
Homo sapiens ankyrin repeat domain 39 (ANKRD39), mRNA
Homo sapiens ankyrin repeat domain 39 (ANKRD39), mRNA
gi|1519311480|ref|NM_016466.6|

Nucleotide
Homo sapiens COMM domain containing 6 (COMMD6), transcript variant 2, mRNA
Homo sapiens COMM domain containing 6 (COMMD6), transcript variant 2, mRNA
gi|1890336106|ref|NM_203495.4|

Nucleotide
Cognitive Behavior Therapy - StatPearls
Cognitive Behavior Therapy - StatPearls

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113130	Eurofins Ntd Llc (ga)	no assertion criteria provided	Benign (Jan 17, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001971217	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	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113130

Eurofins Ntd Llc (ga)

no assertion criteria provided

Benign
(Jan 17, 2014)

germline

clinical testing

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

SCV001971217

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

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

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
not provided	germline	unknown	2	not provided	not provided	510	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113130.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing (GTR000502744)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing (GTR000503135)	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing (GTR000503138)	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing	PubMed (1)
5	not provided	0	not provided	not provided	clinical testing	PubMed (1)
6	not provided	0	not provided	not provided	clinical testing	PubMed (1)
7	not provided	0	not provided	not provided	clinical testing	PubMed (1)
8	not provided	0	not provided	not provided	clinical testing	PubMed (1)
9	not provided	2	not provided	not provided	clinical testing	PubMed (1)
10	not provided	0	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	3	not provided	not provided	(GTR000502744)	0	not provided	not provided	not provided
2	germline	unknown	79	not provided	not provided	(GTR000503135)	0	not provided	not provided	not provided
3	germline	unknown	3	not provided	not provided	(GTR000503138)	0	not provided	not provided	not provided
4	germline	unknown	33	not provided	not provided		0	not provided	not provided	not provided
5	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
6	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
7	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
8	germline	unknown	105	not provided	not provided		0	not provided	not provided	not provided
9	germline	unknown	148	not provided	not provided		2	not provided	not provided	not provided
10	germline	unknown	139	not provided	not provided		0	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971217.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine