NM_201548.5(CERKL):c.2T>G (p.Met1Arg) AND Retinitis pigmentosa 26

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 29, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001825560.1

Allele description [Variation Report for NM_201548.5(CERKL):c.2T>G (p.Met1Arg)]

NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

Genes:

LOC129935215:ATAC-STARR-seq lymphoblastoid silent region 12158 [Gene]
CERKL:ceramide kinase like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

Preferred name:

NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

HGVS:

NC_000002.12:g.181657005A>C
NG_021178.2:g.5103T>G
NM_001030311.3:c.2T>G
NM_001030312.3:c.2T>G
NM_001030313.3:c.2T>G
NM_001160277.2:c.2T>G
NM_201548.5:c.2T>GMANE SELECT
NP_001025482.1:p.Met1Arg
NP_001025482.1:p.Met1Arg
NP_001025483.1:p.Met1Arg
NP_001025484.1:p.Met1Arg
NP_001153749.1:p.Met1Arg
NP_963842.1:p.Met1Arg
NC_000002.11:g.182521732A>C
NM_001030311.2:c.2T>G
NR_027689.2:n.101T>G
NR_027690.2:n.101T>G

Protein change:

M1R

Links:

dbSNP: rs1187991259

NCBI 1000 Genomes Browser:

rs1187991259

Molecular consequence:

NM_001030311.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001030312.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001030313.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001160277.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_201548.5:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001030311.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001030312.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001030313.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160277.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201548.5:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027689.2:n.101T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_027690.2:n.101T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Retinitis pigmentosa 26 (RP26)
Synonyms:: RP 26
Identifiers:: MONDO: MONDO:0012024; MedGen: C1842127; Orphanet: 791; OMIM: 608380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002076199	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Nov 29, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002076199

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Nov 29, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002076199.2

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

Last Updated: Sep 29, 2024

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