NM_000344.3(SMN1):c.5C>T (p.Ala2Val) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 26, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000785800.1

Allele description [Variation Report for NM_000344.3(SMN1):c.5C>T (p.Ala2Val)]

NM_000344.3(SMN1):c.5C>T (p.Ala2Val)

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.5C>T (p.Ala2Val)
HGVS:
  • NC_000005.10:g.70925108C>T
  • NG_008691.1:g.5168C>T
  • NM_000344.3:c.5C>T
  • NM_001297715.1:c.5C>T
  • NM_022874.2:c.5C>T
  • NP_000335.1:p.Ala2Val
  • NP_001284644.1:p.Ala2Val
  • NP_075012.1:p.Ala2Val
  • LRG_676t1:c.5C>T
  • LRG_676:g.5168C>T
  • LRG_676p1:p.Ala2Val
  • NC_000005.9:g.70220935C>T
Protein change:
A2V
Links:
dbSNP: rs1554066397
NCBI 1000 Genomes Browser:
rs1554066397
Molecular consequence:
  • NM_000344.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924367Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Childrencriteria provided, single submitter
Likely pathogenic
(Feb 26, 2016)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not 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 Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children, SCV000924367.1

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

Description

negative for homozygous deletion

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 4, 2020

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