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NM_016038.4(SBDS):c.258+2T>C AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2014
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:
RCV000623539.6

Allele description

NM_016038.4(SBDS):c.258+2T>C

Gene:
SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_016038.4(SBDS):c.258+2T>C
Other names:
c.258+2T>C
HGVS:
  • NC_000007.14:g.66994210A>G
  • NG_007277.1:g.6392T>C
  • NG_033069.1:g.2406A>G
  • NM_016038.4:c.258+2T>CMANE SELECT
  • LRG_104t1:c.258+2T>C
  • LRG_104:g.6392T>C
  • NC_000007.13:g.66459197A>G
  • NM_016038.2:c.258+2T>C
  • NM_016038.2:c.[258+2T>C]
  • NM_016038.3:c.258+2T>C
Nucleotide change:
IVS2DS, T-C, +2
Links:
OMIM: 607444.0002; dbSNP: rs113993993
NCBI 1000 Genomes Browser:
rs113993993
Molecular consequence:
  • NM_016038.4:c.258+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
effect on RNA splicing [Variation Ontology: 0362]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740932Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jun 5, 2014) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asian/Chinesegermlineyes1not providednot provided1not providedclinical testing
Caucasian/Italian/German/Georgiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.

Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.

PubMed [citation]
PMID:
12496757

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K.

Tohoku J Exp Med. 2005 Jul;206(3):253-9.

PubMed [citation]
PMID:
15942154
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000740932.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian/Chinese1not providednot providedclinical testing PubMed (5)
2Caucasian/Italian/German/Georgian1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024