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NM_000344.4(SMN1):c.316G>A (p.Gly106Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2016
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:
RCV000785803.2

Allele description [Variation Report for NM_000344.4(SMN1):c.316G>A (p.Gly106Ser)]

NM_000344.4(SMN1):c.316G>A (p.Gly106Ser)

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_000344.4(SMN1):c.316G>A (p.Gly106Ser)
HGVS:
  • NC_000005.10:g.70942400G>A
  • NG_008691.1:g.22460G>A
  • NM_000344.4:c.316G>AMANE SELECT
  • NM_001297715.1:c.316G>A
  • NM_022874.2:c.316G>A
  • NP_000335.1:p.Gly106Ser
  • NP_000335.1:p.Gly106Ser
  • NP_001284644.1:p.Gly106Ser
  • NP_075012.1:p.Gly106Ser
  • LRG_676t1:c.316G>A
  • LRG_676:g.22460G>A
  • LRG_676p1:p.Gly106Ser
  • NC_000005.9:g.70238227G>A
  • NM_000344.3:c.316G>A
Protein change:
G106S
Links:
dbSNP: rs1561499628
NCBI 1000 Genomes Browser:
rs1561499628
Molecular consequence:
  • NM_000344.4:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924371Molecular Diagnostics Lab, Nemours Children's Health, Delaware
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 1, 2016) 		biparental, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot provided1not providedclinical testing
not providedunknownno1not 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 Children's Health, Delaware, SCV000924371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

negative deletion analysis, found in trans with c.796T>C

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023