NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 3, 2015
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:: RCV001724909.2

Allele description [Variation Report for NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC]

NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC

Genes:

DES-LCR:desmin locus control region [Gene]
DES:desmin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC

HGVS:

NC_000002.12:g.219418446_219418447insGCGCCCGCCAGCC
NG_008043.1:g.5070_5071insGCGCCCGCCAGCC
NG_046330.1:g.18838_18839insGCGCCCGCCAGCC
NM_001382708.1:c.-17_-16insGCGCCCGCCAGCC
NM_001382709.1:c.-17_-16insGCGCCCGCCAGCC
NM_001382710.1:c.-17_-16insGCGCCCGCCAGCC
NM_001382711.1:c.-17_-16insGCGCCCGCCAGCC
NM_001382712.1:c.-17_-16insGCGCCCGCCAGCC
NM_001382713.1:c.-17_-16insGCGCCCGCCAGCC
NM_001927.4:c.-17_-16insGCGCCCGCCAGCCMANE SELECT
LRG_380:g.5070_5071insGCGCCCGCCAGCC
NC_000002.11:g.220283168_220283169insGCGCCCGCCAGCC

Links:

dbSNP: rs2125165586

NCBI 1000 Genomes Browser:

rs2125165586

Molecular consequence:

NM_001382708.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382709.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382710.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382711.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382712.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382713.1:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001927.4:c.-17_-16insGCGCCCGCCAGCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001950546	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001950546

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

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, SCV001950546.2

#	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: Dec 24, 2023

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