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NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) AND Retinal dystrophy with or without macular staphyloma

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jan 17, 2024
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:
RCV003227770.2

Allele description [Variation Report for NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)]

NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu)

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.347C>T (p.Pro116Leu)
Other names:
CFAP410
HGVS:
  • NC_000021.9:g.44333059G>A
  • NG_032952.1:g.11344C>T
  • NM_001271440.2:c.347C>T
  • NM_001271441.2:c.347C>T
  • NM_001271442.1:c.224C>T
  • NM_004928.3:c.347C>TMANE SELECT
  • NP_001258369.1:p.Pro116Leu
  • NP_001258370.1:p.Pro116Leu
  • NP_001258371.1:p.Pro75Leu
  • NP_004919.1:p.Pro116Leu
  • NC_000021.8:g.45752942G>A
  • NM_004928.2:c.347C>T
Protein change:
P116L; PRO116LEU
Links:
OMIM: 603191.0009; dbSNP: rs922930539
NCBI 1000 Genomes Browser:
rs922930539
Molecular consequence:
  • NM_001271440.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271441.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271442.1:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004928.3:c.347C>T - 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
SCV003924384Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Eye Hospital
no assertion criteria provided
Likely pathogenicbiparentalresearch

SCV004232452Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 17, 2024) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providedyesresearch
Asiabiparentalyes1not providednot providednot providednot providedresearch

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 Henan Ocular Pharmacology and Therapeutics International Laboratory, Henan Eye Hospital, SCV003924384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asia1not providednot providedresearchnot provided

Description

The P116L variant in CFAP410 has been reported in a family with axial spondylometaphyseal dysplasia (AXSMD) and located in the LRRCT domain. Another variant was Y107H. (Wang et al., 2016)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV004232452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024