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NM_016329.4(SFMBT1):c.-130-31769_-130-30020del AND Large for gestational age

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:
RCV000161276.2

Allele description

NM_016329.4(SFMBT1):c.-130-31769_-130-30020del

Gene:
SFMBT1:Scm like with four mbt domains 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_016329.4(SFMBT1):c.-130-31769_-130-30020del
HGVS:
  • NC_000003.12:g.52999279_53001028del
  • NM_016329.4:c.-130-31769_-130-30020delMANE SELECT
  • NC_000003.11:g.53033295_53035044del
Molecular consequence:
  • NM_016329.4:c.-130-31769_-130-30020del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Large for gestational age
Identifiers:
MedGen: C1848395; Human Phenotype Ontology: HP:0001520

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191233Institute of Molecular and Cell Biology, University of Tartu - Kasak2014
no classification provided
not providedunknowncase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Extensive load of somatic CNVs in the human placenta.

Kasak L, Rull K, Vaas P, Teesalu P, Laan M.

Sci Rep. 2015 Feb 10;5:8342. doi: 10.1038/srep08342.

PubMed [citation]
PMID:
25666259
PMCID:
PMC4914949

Details of each submission

From Institute of Molecular and Cell Biology, University of Tartu - Kasak2014, SCV000191233.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
2not providednot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedBloodnot providednot providednot providednot providednot provided
2unknownyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: May 7, 2024