NM_001029871.4(RSPO4):c.98dup (p.Asn34fs) AND Anonychia

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 25, 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:: RCV000001253.6

Allele description [Variation Report for NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)]

NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)

Gene:

RSPO4:R-spondin 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)

HGVS:

NC_000020.11:g.968125dup
NG_013043.1:g.39145dup
NM_001029871.4:c.98dupMANE SELECT
NM_001040007.3:c.98dup
NP_001025042.2:p.Asn34fs
NP_001035096.1:p.Asn34fs
NC_000020.10:g.948768dup

Protein change:

N34fs

Links:

OMIM: 610573.0005; dbSNP: rs768138495

NCBI 1000 Genomes Browser:

rs768138495

Molecular consequence:

NM_001029871.4:c.98dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001040007.3:c.98dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Anonychia (NDNC4)
Synonyms:: Hyponychia congenita; NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; ANONYCHIA/HYPONYCHIA CONGENITA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008798; MedGen: C0265998; Orphanet: 79143; OMIM: 206800; Human Phenotype Ontology: HP:0001798

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021403	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004805979	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 25, 2024)	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

SCV000021403

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2006)

germline

literature only

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

SCV004805979

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 25, 2024)

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

Citations

PubMed

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K.

Am J Hum Genet. 2006 Dec;79(6):1105-9. Epub 2006 Oct 17.

PubMed [citation]

PMID:: 17186469
PMCID:: PMC1698700

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, SCV000021403.4

#	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 1-bp insertion in the RSPO4 gene (92_93insG) that was found in compound heterozygous state in affected members of a family with anonychia congenita (NDNC4; 206800) by Bergmann et al. (2006), see 610573.0004.

#	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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004805979.1

#	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: Apr 6, 2024

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