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NM_000344.4(SMN1):c.135dup (p.Ala46fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 2, 2017
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:
RCV000516388.2

Allele description [Variation Report for NM_000344.4(SMN1):c.135dup (p.Ala46fs)]

NM_000344.4(SMN1):c.135dup (p.Ala46fs)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.4(SMN1):c.135dup (p.Ala46fs)
HGVS:
  • NC_000005.10:g.70938892dup
  • NG_008691.1:g.18952dup
  • NM_000344.4:c.135dupMANE SELECT
  • NM_001297715.1:c.135dup
  • NM_022874.2:c.135dup
  • NP_000335.1:p.Ala46fs
  • NP_000335.1:p.Ala46fs
  • NP_001284644.1:p.Ala46fs
  • NP_075012.1:p.Ala46fs
  • LRG_676t1:c.135dup
  • LRG_676:g.18952dup
  • LRG_676p1:p.Ala46fs
  • NC_000005.9:g.70234719dup
  • NM_000344.3:c.135dup
Protein change:
A46fs
Links:
dbSNP: rs1554081951
NCBI 1000 Genomes Browser:
rs1554081951
Molecular consequence:
  • NM_000344.4:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297715.1:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022874.2:c.135dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000615350Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(May 2, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000615350.1

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

Last Updated: May 7, 2024