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NM_138927.4(SON):c.5753_5756del (p.Val1918fs) AND Hereditary spastic paraplegia 17

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2021
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:
RCV001753715.4

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:
Hereditary spastic paraplegia 17
Synonyms:
Silver spastic paraplegia syndrome; Spastic paraplegia 17; Spastic paraplegia with amyotrophy of hands and feet; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010043; MedGen: C2931276; Orphanet: 100998; OMIM: 270685

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001994791Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
no assertion criteria provided

(ACMG Guidelines, 2022)		Pathogenic
(Oct 25, 2021) 		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

There's more than one way to build a medical home.

Tirodkar MA, Morton S, Whiting T, Monahan P, McBee E, Saunders R, Scholle SH.

Am J Manag Care. 2014 Dec 1;20(12):e582-9.

PubMed [citation]
PMID:
25741875

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001994791.1

#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