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NM_138927.4(SON):c.5753_5756del (p.Val1918fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2016
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:
RCV000491471.3

Allele description [Variation Report for NM_138927.4(SON):c.5753_5756del (p.Val1918fs)]

NM_138927.4(SON):c.5753_5756del (p.Val1918fs)

Gene:
SON:SON DNA and RNA binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
Other names:
p.V1918Efs*87; NM_138927.4(SON):c.5753_5756del; p.Val1918fs
HGVS:
  • NC_000021.9:g.33554984_33554987del
  • NG_052981.1:g.16947_16950del
  • NM_001291411.2:c.5753_5756del
  • NM_001291412.3:c.245-2172_245-2169del
  • NM_032195.3:c.5753_5756del
  • NM_138927.4:c.5753_5756delMANE SELECT
  • NP_001278340.2:p.Val1918fs
  • NP_115571.3:p.Val1918fs
  • NP_620305.3:p.Val1918fs
  • NC_000021.8:g.34927288_34927291del
  • NC_000021.8:g.34927290_34927293del
  • NM_032195.2:c.5753_5756del
  • NM_032195.2:c.5753_5756delTTAG
  • NM_138927.1:c.5753_5756delTTAG
  • NM_138927.2:c.5751_5754delAGTT
  • NM_138927.2:c.5753_5756delTTAG
  • NM_138927.3:c.5753_5756del
  • NM_138927.4:c.5751_5754delMANE SELECT
  • NM_138927.4:c.5753_5756del
  • NR_103797.2:n.5808_5811del
Protein change:
V1918fs
Links:
OMIM: 182465.0001; dbSNP: rs886039773
NCBI 1000 Genomes Browser:
rs886039773
Molecular consequence:
  • NM_001291411.2:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032195.3:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_138927.4:c.5753_5756del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001291412.3:c.245-2172_245-2169del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_103797.2:n.5808_5811del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297721Baylor Genetics - SON
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Jun 21, 2016) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, et al.

Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18.

PubMed [citation]
PMID:
27545676
PMCID:
PMC5011061

Details of each submission

From Baylor Genetics - SON, SCV000297721.1

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

Last Updated: Oct 8, 2024