NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000713373.2

Allele description [Variation Report for NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)]

NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)
HGVS:
  • NC_000005.10:g.70946127G>T
  • NG_008691.1:g.26187G>T
  • NM_000344.3:c.785G>T
  • NM_001297715.1:c.785G>T
  • NM_022874.2:c.689G>T
  • NP_000335.1:p.Ser262Ile
  • NP_001284644.1:p.Ser262Ile
  • NP_075012.1:p.Ser230Ile
  • LRG_676t1:c.785G>T
  • LRG_676:g.26187G>T
  • LRG_676p1:p.Ser262Ile
  • NC_000005.9:g.70241954G>T
  • Q16637:p.Ser262Ile
Protein change:
S230I; SER262ILE
Links:
UniProtKB: Q16637#VAR_005616; OMIM: 600354.0003; dbSNP: rs1554066659
NCBI 1000 Genomes Browser:
rs1554066659
Molecular consequence:
  • NM_000344.3:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.785G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.689G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843973Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Sep 7, 2017)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Targeting of SMN to Cajal bodies is mediated by self-association.

Morse R, Shaw DJ, Todd AG, Young PJ.

Hum Mol Genet. 2007 Oct 1;16(19):2349-58. Epub 2007 Jul 17.

PubMed [citation]
PMID:
17635841

Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies.

Morse R, Todd AG, Shaw DJ, McConville AL, Robinson IM, Young PJ.

Neuromolecular Med. 2011 Mar;13(1):77-87. doi: 10.1007/s12017-010-8139-1. Epub 2010 Nov 17.

PubMed [citation]
PMID:
21082361
See all PubMed Citations (10)

Details of each submission

From Athena Diagnostics Inc, SCV000843973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

Support Center