NM_080860.4(RSPH1):c.407_410del (p.Lys136fs) AND Primary ciliary dyskinesia 24

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 23, 2020
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:: RCV000057511.8

Allele description [Variation Report for NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)]

NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)

Gene:

RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)

HGVS:

NC_000021.9:g.42485760TACT[1]
NG_034257.1:g.15588AGTA[1]
NM_001286506.2:c.293_296del
NM_080860.4:c.407_410delMANE SELECT
NP_001273435.1:p.Lys98fs
NP_543136.1:p.Lys136fs
NC_000021.8:g.43905870TACT[1]
NM_080860.2:c.407_410del
NM_080860.2:c.407_410delAGTA
NP_543136.1:p.Lys136MetfsTer6

Protein change:

K136fs

Links:

OMIM: 609314.0003; dbSNP: rs587777059

NCBI 1000 Genomes Browser:

rs587777059

Molecular consequence:

NM_001286506.2:c.293_296del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_080860.4:c.407_410del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Primary ciliary dyskinesia 24 (CILD24)
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0014202; MedGen: C3809634; Orphanet: 244; OMIM: 615481

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000088623	OMIM	no assertion criteria provided	Pathogenic (Sep 5, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002019080	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 23, 2020)	germline	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

SCV000088623

OMIM

no assertion criteria provided

Pathogenic
(Sep 5, 2013)

germline

literature only

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

SCV002019080

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 23, 2020)

germline

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, et al.

Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.

PubMed [citation]

PMID:: 23993197
PMCID:: PMC3769924

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 OMIM, SCV000088623.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 4-bp deletion (c.407_410del) in the RSPH1 gene that was found in compound heterozygous state in 2 unrelated patients with primary ciliary dyskinesia without situs inversus (CILD24; 615481) by Kott et al. (2013), see 609314.0002.

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

From Revvity Omics, Revvity, SCV002019080.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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