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NM_000180.4(GUCY2D):c.1956+2T>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: May 15, 2020)
Last evaluated:
Dec 30, 2017
Accession:
VCV000098550.2
Variation ID:
98550
Description:
single nucleotide variant
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NM_000180.4(GUCY2D):c.1956+2T>A

Allele ID
104443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 8012352 (GRCh38) GRCh38 UCSC
17: 7915670 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.8012352T>A
NC_000017.10:g.7915670T>A
NM_000180.4:c.1956+2T>A MANE Select splice donor
NG_009092.1:g.14683T>A
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:8012351:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA226057
dbSNP: rs61749758
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Dec 30, 2017 RCV000761437.2
not provided 1 no assertion provided - RCV000084843.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GUCY2D - - GRCh38
GRCh37
555 581

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 30, 2017)
criteria provided, single submitter
Method: curation
Leber congenital amaurosis 1
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891519.1
Submitted: (Oct 25, 2018)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: research
Leber congenital amaurosis 1
Allele origin: inherited
Laboratory of Genetics in Ophthalmology,Institut Imagine
Accession: SCV001426323.1
Submitted: (May 15, 2020)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Retina International
Accession: SCV000116979.1
Submitted: (Dec 20, 2012)
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_GC1:c.1956%2B2T>A
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Spectrum of retGC1 mutations in Leber's congenital amaurosis. Perrault I European journal of human genetics : EJHG 2000 PMID: 10951519

Text-mined citations for rs61749758...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021