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NM_201548.5(CERKL):c.27G>A (p.Arg9=) AND Retinitis pigmentosa 26

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 31, 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:
RCV001271353.1

Allele description [Variation Report for NM_201548.5(CERKL):c.27G>A (p.Arg9=)]

NM_201548.5(CERKL):c.27G>A (p.Arg9=)

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.27G>A (p.Arg9=)
HGVS:
  • NC_000002.12:g.181656980C>T
  • NG_021178.2:g.5128G>A
  • NM_001030311.3:c.27G>A
  • NM_001030312.3:c.27G>A
  • NM_001030313.3:c.27G>A
  • NM_001160277.2:c.27G>A
  • NM_201548.5:c.27G>AMANE SELECT
  • NP_001025482.1:p.Arg9=
  • NP_001025482.1:p.Arg9=
  • NP_001025483.1:p.Arg9=
  • NP_001025484.1:p.Arg9=
  • NP_001153749.1:p.Arg9=
  • NP_963842.1:p.Arg9=
  • NC_000002.11:g.182521707C>T
  • NM_001030311.2:c.27G>A
  • NM_201548.4:c.27G>A
  • NR_027689.2:n.126G>A
  • NR_027690.2:n.126G>A
Links:
dbSNP: rs368855330
NCBI 1000 Genomes Browser:
rs368855330
Molecular consequence:
  • NR_027689.2:n.126G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_027690.2:n.126G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001030311.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001030312.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001030313.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160277.2:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_201548.5:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001452441Natera, Inc.
no assertion criteria provided
Likely benign
(May 31, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001452441.1

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

Last Updated: May 19, 2024