NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) AND Retinitis pigmentosa 49

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490331.1

Allele description [Variation Report for NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)]

NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)

Genes:

CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)

HGVS:

NC_000004.12:g.47937223C>T
NG_009193.1:g.80722G>A
NM_000087.5:c.1259G>A
NM_001142564.2:c.1259G>A
NM_001379270.1:c.1259G>AMANE SELECT
NP_000078.3:p.Arg420Gln
NP_001136036.2:p.Arg420Gln
NP_001366199.1:p.Arg420Gln
NC_000004.11:g.47939240C>T
NM_000087.3:c.1271G>A

Protein change:

R420Q

Links:

dbSNP: rs192912733

NCBI 1000 Genomes Browser:

rs192912733

Molecular consequence:

NM_000087.5:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142564.2:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379270.1:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 49 (RP49)
Identifiers:: MONDO: MONDO:0013405; MedGen: C3151059; Orphanet: 791; OMIM: 613756

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267258	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 18310263, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267258

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	2	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S.

J Med Genet. 2008 Jul;45(7):465-72. doi: 10.1136/jmg.2007.056416. Epub 2008 Feb 29.

PubMed [citation]

PMID:: 18310263

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267258.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	2	not provided	not provided	reference population	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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