NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) AND Retinitis pigmentosa 26

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jan 4, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001836101.6

Allele description

NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)

Gene:

CERKL:CERK like autophagy regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

Preferred name:

NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)

HGVS:

NC_000002.12:g.181544750G>A
NG_021178.2:g.117358C>T
NM_001030311.3:c.1393C>T
NM_001030312.3:c.976C>T
NM_001030313.3:c.1108C>T
NM_001160277.2:c.1261C>T
NM_201548.5:c.1315C>TMANE SELECT
NP_001025482.1:p.Arg465Trp
NP_001025482.1:p.Arg465Trp
NP_001025483.1:p.Arg326Trp
NP_001025484.1:p.Arg370Trp
NP_001153749.1:p.Arg421Trp
NP_963842.1:p.Arg439Trp
NC_000002.11:g.182409477G>A
NC_000002.11:g.182409477G>A
NM_001030311.2:c.1393C>T
NM_201548.5:c.1315C>T
NR_027689.2:n.1218C>T
NR_027690.2:n.1350C>T

Protein change:

R326W

Links:

dbSNP: rs139300604

NCBI 1000 Genomes Browser:

rs139300604

Molecular consequence:

NM_001030311.3:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001030312.3:c.976C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001030313.3:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160277.2:c.1261C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201548.5:c.1315C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027689.2:n.1218C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_027690.2:n.1350C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV002080259	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 2, 2020)	germline	clinical testing
SCV002579477	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 8, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004216801	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 4, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002080259

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 2, 2020)

germline

clinical testing

SCV002579477

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 8, 2021)

germline

clinical testing

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

SCV004216801

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 4, 2024)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Natera, Inc., SCV002080259.1

#	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

From MGZ Medical Genetics Center, SCV002579477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Baylor Genetics, SCV004216801.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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