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NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) AND Spinal muscular atrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 2022
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:
RCV001824116.10

Allele description [Variation Report for NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)]

NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)

Gene:
SMN2:survival of motor neuron 2, centromeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)
HGVS:
  • NC_000005.10:g.70076545G>C
  • NG_008728.1:g.32023G>C
  • NM_017411.4:c.859G>CMANE SELECT
  • NM_022875.3:c.835-474G>C
  • NM_022876.2:c.763G>C
  • NM_022877.2:c.739-474G>C
  • NP_059107.1:p.Gly287Arg
  • NP_059107.1:p.Gly287Arg
  • NP_059107.1:p.Gly287Arg
  • NP_075014.1:p.Gly255Arg
  • LRG_677t1:c.859G>C
  • LRG_677t2:c.835-474G>C
  • LRG_677:g.32023G>C
  • LRG_677p1:p.Gly287Arg
  • NC_000005.9:g.69372372G>C
  • NM_017411.3:c.859G>C
Protein change:
G255R; GLY287ARG
Links:
OMIM: 601627.0001; dbSNP: rs121909192
NCBI 1000 Genomes Browser:
rs121909192
Molecular consequence:
  • NM_022875.3:c.835-474G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022877.2:c.739-474G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017411.4:c.859G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022876.2:c.763G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Spinal muscular atrophy (SMA)
Identifiers:
MONDO: MONDO:0001516; MeSH: D009134; MedGen: C0026847; Human Phenotype Ontology: HP:0007269

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073746DASA
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 5, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From DASA, SCV002073746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.859G>C;p.(Gly287Arg) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 7962; OMIM: 601627.0001) - PS4. The variant is located in a mutational hot spot and/or critical and well-established functional domain (SMN) - PM1 and allele frequency is greater than expected for disorder - BS1. In summary, the currently available evidence indicates that the variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024