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NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys) AND Retinal dystrophy with or without macular staphyloma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2018
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:
RCV000492052.3

Allele description [Variation Report for NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys)]

NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys)

Gene:
CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_004928.3(CFAP410):c.320A>G (p.Tyr107Cys)
HGVS:
  • NC_000021.9:g.44333086T>C
  • NG_032952.1:g.11317A>G
  • NM_001271440.2:c.320A>G
  • NM_001271441.2:c.320A>G
  • NM_001271442.1:c.197A>G
  • NM_004928.3:c.320A>GMANE SELECT
  • NP_001258369.1:p.Tyr107Cys
  • NP_001258370.1:p.Tyr107Cys
  • NP_001258371.1:p.Tyr66Cys
  • NP_004919.1:p.Tyr107Cys
  • NC_000021.8:g.45752969T>C
  • NM_004928.2:c.320A>G
Protein change:
Y107C; TYR107CYS
Links:
OMIM: 603191.0011; dbSNP: rs1131690801
NCBI 1000 Genomes Browser:
rs1131690801
Molecular consequence:
  • NM_001271440.2:c.320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271441.2:c.320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271442.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004928.3:c.320A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy with or without macular staphyloma
Identifiers:
MONDO: MONDO:0060507; MedGen: C4479651; OMIM: 617547

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580663OMIM
no assertion criteria provided
Pathogenic
(Jul 17, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T.

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63. doi: 10.1167/iovs.16-19450.

PubMed [citation]
PMID:
27548899

Details of each submission

From OMIM, SCV000580663.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese brother and sister with isolated retinal dystrophy (RDMS; 617547), Suga et al. (2016) identified homozygosity for a c.320A-G transition (c.320A-G, NM_004928) in exon 4 of the C21ORF2 gene, resulting in a tyr107-to-cys (Y107C) substitution at a highly conserved residue within the LLRCT domain, a capping motif downstream of the last LLR. An unaffected sister was heterozygous for the mutation, which was not found in the Japan Whole Exome Project database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024