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NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) AND CFAP410-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2024
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:
RCV003409679.6

Allele description [Variation Report for NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)]

NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)

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.218G>C (p.Arg73Pro)
Other names:
CFAP410, ARG73PRO (rs140451304)
HGVS:
  • NC_000021.9:g.44333188C>G
  • NG_032952.1:g.11215G>C
  • NM_001271440.2:c.218G>C
  • NM_001271441.2:c.218G>C
  • NM_001271442.1:c.95G>C
  • NM_004928.3:c.218G>CMANE SELECT
  • NP_001258369.1:p.Arg73Pro
  • NP_001258370.1:p.Arg73Pro
  • NP_001258371.1:p.Arg32Pro
  • NP_004919.1:p.Arg73Pro
  • NC_000021.8:g.45753071C>G
  • NM_001271440.1:c.218G>C
  • NM_001271441.1:c.218G>C
  • NM_004928.2:c.218G>C
Protein change:
R32P; ARG73PRO
Links:
OMIM: 603191.0001; dbSNP: rs140451304
NCBI 1000 Genomes Browser:
rs140451304
Molecular consequence:
  • NM_001271440.2:c.218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271441.2:c.218G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271442.1:c.95G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004928.3:c.218G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFAP410-related disorder
Synonyms:
CFAP410-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004109827PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 10, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004109827.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFAP410 c.218G>C variant is predicted to result in the amino acid substitution p.Arg73Pro. This variant has been reported as segregating with disease in both the homozygous and compound heterozygous states in kindreds with Jeune syndrome or cone-rod dystrophy (Table S8, Wheway et al. 2015. PubMed ID: 26167768). This variant has also been reported along with a second CFAP410 variant in large cohort studies of retinal disease (Table S2, Carss et al. 2017. PubMed ID: 28041643; Zhang et al. 2016. PubMed ID: 27596865; Table S1, Lin. 2024. PubMed ID: 38219857). Additionally, this variant has been reported in the homozygous state in two families with axial spondylometaphyseal dysplasia (Wang et al. 2016. PubMed ID: 26974433). Functional studies suggested that p.Arg73Pro is a hypomorphic variant (Wheway et al. 2015. PubMed ID: 26167768). This variant is reported in 0.065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic for autosomal recessive CFAP410-related disorders.

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

Last Updated: Oct 13, 2024