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NM_001204527.1(SSR4):c.380_381delAG (p.Arg128Glufs) AND Congenital disorder of glycosylation type 1y

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 12, 2013
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:
RCV000184044.1

Allele description

NM_001204527.1(SSR4):c.380_381delAG (p.Arg128Glufs)

Gene:
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001204527.1(SSR4):c.380_381delAG (p.Arg128Glufs)
HGVS:
  • NC_000023.11:g.153798075_153798076delAG
  • NG_041795.1:g.8901_8902delAG
  • NM_001204527.1:c.380_381delAG
  • NP_001191456.1:p.Arg128Glufs
  • NC_000023.10:g.153063530_153063531delAG
  • NR_037927.1:n.701_702delAG
  • NW_003871103.3:g.1232058_1232059delAG
Links:
dbSNP: rs794729223
NCBI 1000 Genomes Browser:
rs794729223
Molecular consequence:
  • NM_001204527.1:c.380_381delAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037927.1:n.701_702delAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital disorder of glycosylation type 1y (CDG1Y)
Synonyms:
CDG IY
Identifiers:
MedGen: CN221287; Orphanet: 370927; OMIM: 300934
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 370927

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236575Mendelics Analise Genomica
no assertion criteria provided
Likely pathogenic
(Dec 12, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics., Freeze HH.

Hum Mol Genet. 2014 Mar 15;23(6):1602-5. doi: 10.1093/hmg/ddt550. Epub 2013 Nov 11.

PubMed [citation]
PMID:
24218363
PMCID:
PMC3929095

Details of each submission

From Mendelics Analise Genomica, SCV000236575.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 6, 2017