NM_003790.2(TNFRSF25):c.-77_-74del AND Distal spinal muscular atrophy

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000361894.2

Allele description [Variation Report for NM_003790.2(TNFRSF25):c.-77_-74del]

NM_003790.2(TNFRSF25):c.-77_-74del

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_003790.2(TNFRSF25):c.-77_-74del
HGVS:
  • NC_000001.11:g.6466184_6466187del
  • NG_007978.1:g.58826_58829del
  • NG_029910.1:g.5012_5015del
  • NM_001039664.1:c.-77_-74del
  • NM_001042663.2:c.*1379_*1382del
  • NM_001042664.1:c.*1379_*1382del
  • NM_001042665.1:c.*1379_*1382del
  • NM_001265592.1:c.*1379_*1382del
  • NM_001265593.1:c.*1379_*1382del
  • NM_001265594.2:c.*1407_*1410del
  • NM_003790.2:c.-77_-74del
  • NM_020631.5:c.*1379_*1382del
  • NM_148965.1:c.-77_-74del
  • NM_148966.1:c.-77_-74del
  • NM_148967.1:c.-77_-74del
  • NM_148970.1:c.-77_-74del
  • NM_198681.3:c.*1379_*1382del
  • LRG_262:g.58826_58829del
  • NC_000001.10:g.6526244_6526247del
  • NM_020631.4:c.*1379_*1382delGGCG
Links:
dbSNP: rs45542640
NCBI 1000 Genomes Browser:
rs45542640
Molecular consequence:
  • NM_001042663.2:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001042664.1:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001042665.1:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001265592.1:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001265593.1:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001265594.2:c.*1407_*1410del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_020631.5:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_198681.3:c.*1379_*1382del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001039664.1:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_003790.2:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_148965.1:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_148966.1:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_148967.1:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_148970.1:c.-77_-74del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Distal spinal muscular atrophy
Identifiers:
MONDO: MONDO:0018894; MedGen: C0393541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000358690Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000358690.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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