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NM_006343.3(MERTK):c.992_993del (p.Ser331fs) AND Retinitis pigmentosa 38

Germline classification:
Pathogenic (1 submission)
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:
RCV000986795.1

Allele description [Variation Report for NM_006343.3(MERTK):c.992_993del (p.Ser331fs)]

NM_006343.3(MERTK):c.992_993del (p.Ser331fs)

Genes:
MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
LOC112806037:Sharpr-MPRA regulatory region 3720 [Gene]
Variant type:
Deletion
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_006343.3(MERTK):c.992_993del (p.Ser331fs)
HGVS:
  • NC_000002.12:g.111975320_111975321del
  • NG_011607.1:g.81707_81708del
  • NG_060893.1:g.229_230del
  • NM_006343.2:c.992_993delCA
  • NM_006343.3:c.992_993delMANE SELECT
  • NP_006334.2:p.Ser331fs
  • NC_000002.11:g.112732897_112732898del
  • NC_000002.11:g.112732897_112732898del
  • NC_000002.11:g.112732897_112732898delCA
Protein change:
S331fs
Links:
dbSNP: rs1573613491
NCBI 1000 Genomes Browser:
rs1573613491
Molecular consequence:
  • NM_006343.3:c.992_993del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135926Mendelics
criteria provided, single submitter

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135926.1

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

Last Updated: Sep 29, 2024