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NM_006642.3(SDCCAG8):c.1946_1949delGTGT (p.Cys649Serfs) AND Senior-Loken syndrome 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2010
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:
RCV000000076.4

Allele description

NM_006642.3(SDCCAG8):c.1946_1949delGTGT (p.Cys649Serfs)

Gene:
SDCCAG8:serologically defined colon cancer antigen 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_006642.3(SDCCAG8):c.1946_1949delGTGT (p.Cys649Serfs)
HGVS:
  • NC_000001.11:g.243426519_243426522delGTGT
  • NG_027811.1:g.175515_175518delGTGT
  • NM_006642.3:c.1946_1949delGTGT
  • NP_006633.1:p.Cys649Serfs
  • NC_000001.10:g.243589821_243589824delGTGT
Links:
OMIM: 613524.0003; dbSNP: rs397515336
NCBI 1000 Genomes Browser:
rs397515336
Molecular consequence:
  • NM_006642.3:c.1946_1949delGTGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Senior-Loken syndrome 7 (SLSN7)
Identifiers:
MedGen: C3150877; Orphanet: 3156; OMIM: 613615
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 3156

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020219OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, et al.

Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.

PubMed [citation]
PMID:
20835237
PMCID:
PMC2947620

Details of each submission

From OMIM, SCV000020219.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

By direct exon sequencing of 118 families with Senior-Loken syndrome, Otto et al. (2010) found a homozygous truncating mutation in the SDCCAG8 gene in 1 family, consistent with Senior-Loken syndrome-7 (SLSN7; 613615). The mutation was a 4-bp deletion (1946delGTGT) in exon 16, resulting in frameshift and premature termination (Cys649fsTer658). The patient had retinal degeneration, and nephronophthisis was confirmed by renal biopsy at age 22 years. The mutation was not found in 270 control individuals.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 5, 2016