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NM_006343.3(MERTK):c.2189+1G>T AND Retinitis pigmentosa 38

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 25, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000005734.7

Allele description [Variation Report for NM_006343.3(MERTK):c.2189+1G>T]

NM_006343.3(MERTK):c.2189+1G>T

Gene:
MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_006343.3(MERTK):c.2189+1G>T
Other names:
NP_006334.2:p.?
HGVS:
  • NC_000002.12:g.112019523G>T
  • NG_011607.1:g.125910G>T
  • NM_006343.3:c.2189+1G>TMANE SELECT
  • NC_000002.11:g.112777100G>T
  • NM_006343.2:c.2189+1G>T
  • p.(=)
Nucleotide change:
IVS16DS, G-T, +1
Links:
OMIM: 604705.0004; dbSNP: rs371956016
NCBI 1000 Genomes Browser:
rs371956016
Molecular consequence:
  • NM_006343.3:c.2189+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Retinitis pigmentosa 38 (RP38)
Synonyms:
ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
Identifiers:
MONDO: MONDO:0013469; MedGen: C3151228; Orphanet: 791; OMIM: 613862

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025916OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2007)
germlineliterature only

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

SCV001135928Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV004805925Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 25, 2024)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PubMed [citation]
PMID:
17301963

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000025916.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 sibs from a consanguineous Moroccan family with retinal dystrophy (RP38; 613862), Ebermann et al. (2007) identified a homozygous G-to-T transversion in intron 16 (2189+1G-T), resulting in the skipping of exon 16 and truncation of the protein to 696 residues. Ebermann et al. (2007) classified the retinal dystrophy as 'cone-rod dystrophy.'

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001135928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004805925.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024