NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter) AND Anonychia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2008
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:: RCV000023830.3

Allele description [Variation Report for NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)]

NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)

HGVS:

NC_000020.11:g.967282G>A
NG_013043.1:g.39983C>T
NM_001029871.4:c.301C>TMANE SELECT
NM_001040007.3:c.301C>T
NP_001025042.2:p.Gln101Ter
NP_001035096.1:p.Gln101Ter
NC_000020.10:g.947925G>A

Protein change:

Q101*; GLN101TER

Links:

OMIM: 610573.0006; dbSNP: rs387907026

NCBI 1000 Genomes Browser:

rs387907026

Molecular consequence:

NM_001029871.4:c.301C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001040007.3:c.301C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000045121	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045121

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2008)

germline

literature only

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

Citations

PubMed

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C.

J Invest Dermatol. 2008 Apr;128(4):791-6. Epub 2007 Oct 4.

PubMed [citation]

PMID:: 17914448

Details of each submission

From OMIM, SCV000045121.2

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

Description

In a Kazakh sister and brother with nonsyndromic congenital anonychia (NDNC4; 206800), Bruchle et al. (2008) identified homozygosity for a 301C-T transition in exon 3 of the RSPO4 gene, resulting in a gln101-to-ter (Q101X) substitution.

#	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

Last Updated: Apr 23, 2022

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