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NM_006343.3(MERTK):c.1604+2T>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 2, 2020)
Last evaluated:
May 23, 2018
Accession:
VCV000191124.2
Variation ID:
191124
Description:
single nucleotide variant
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NM_006343.3(MERTK):c.1604+2T>G

Allele ID
188927
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q13
Genomic location
2: 111997478 (GRCh38) GRCh38 UCSC
2: 112755055 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.112755055T>G
NC_000002.12:g.111997478T>G
NG_011607.1:g.103865T>G
NM_006343.3:c.1604+2T>G MANE Select splice donor
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:111997477:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA236069
dbSNP: rs786205534
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000171304.1
Pathogenic 1 no assertion criteria provided May 23, 2018 RCV001257900.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MERTK - - GRCh38
GRCh37
381 463

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221501.1
Submitted: (Apr 14, 2015)
Evidence details
Pathogenic
(May 23, 2018)
no assertion criteria provided
Method: literature only
Autosomal recessive Retinitis Pigmentosa
Allele origin: germline
Faculty of Health Sciences,Beirut Arab University
Accession: SCV001434668.1
Submitted: (Sep 02, 2020)
Evidence details
Publications
PubMed (2)

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
MERTK mutation update in inherited retinal diseases. Audo I Human mutation 2018 PMID: 29659094
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Patel N Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26355662

Text-mined citations for rs786205534...

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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 Nov 27, 2021