NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) AND Cone-rod dystrophy 6

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000989733.3

Allele description [Variation Report for NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)]

NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)

Gene:

GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)

HGVS:

NC_000017.10:g.7906489_7906494del
NC_000017.11:g.8003176_8003181del
NG_009092.1:g.5507_5512del
NM_000180.4:c.129_134delMANE SELECT
NP_000171.1:p.Leu44_Leu45del
NC_000017.10:g.7906489_7906494del
NC_000017.10:g.7906489_7906494delCTGCTT
NC_000017.10:g.7906494_7906499del
NM_000180.3:c.129_134del6
NM_000180.3:c.129_134delTCTGCT
NM_000180.4:c.129_134del

Links:

dbSNP: rs552184470

NCBI 1000 Genomes Browser:

rs552184470

Molecular consequence:

NM_000180.4:c.129_134del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cone-rod dystrophy 6 (CORD6)
Synonyms:: Retinal cone dystrophy 2; Cone dystrophy progressive
Identifiers:: MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001140277	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV004099313	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	no assertion criteria provided	Uncertain significance (Oct 30, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001140277

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Uncertain significance
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV004099313

Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

no assertion criteria provided

Uncertain significance
(Oct 30, 2023)

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001140277.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099313.1

#	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: Dec 7, 2024

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