NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) AND Ritscher-Schinzel syndrome 1

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001028073.2

Allele description [Variation Report for NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)]

NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)

Gene:

CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)

HGVS:

NC_000023.11:g.49235685A>G
NG_009095.2:g.2682T>C
NG_021311.2:g.5221A>G
NM_014008.5:c.49A>GMANE SELECT
NP_054727.1:p.Thr17Ala
NC_000023.10:g.49092145A>G
NM_014008.4:c.49A>G
O60826:p.Thr17Ala

Nucleotide change:

49A-G

Protein change:

T17A

Links:

UniProtKB: O60826#VAR_065912; OMIM: 300859.0001; dbSNP: rs863225428

NCBI 1000 Genomes Browser:

rs863225428

Molecular consequence:

NM_014008.5:c.49A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ritscher-Schinzel syndrome 1 (RTSC1)
Identifiers:: MONDO: MONDO:0009073; MedGen: C4551776; Orphanet: 7; OMIM: 220210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190855	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 21826058, 31971710

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190855

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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	literature only

Citations

PubMed

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.

Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D.

Mol Psychiatry. 2012 Jan;17(1):4-7. doi: 10.1038/mp.2011.95. Epub 2011 Aug 9. No abstract available.

PubMed [citation]

PMID:: 21826058
PMCID:: PMC3586744

Ritscher-Schinzel Syndrome.

Elliott AM, Chudley A.

2020 Jan 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 31971710

Details of each submission

From GeneReviews, SCV001190855.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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: Oct 8, 2022

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