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NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 3, 2020
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:
RCV001530929.1

Allele description [Variation Report for NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)]

NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)

Gene:
SPEN:spen family transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)
HGVS:
  • NC_000001.11:g.15928341G>T
  • NG_050663.1:g.85478G>T
  • NM_015001.3:c.2101G>TMANE SELECT
  • NP_055816.2:p.Glu701Ter
  • NC_000001.10:g.16254836G>T
  • NM_015001.2:c.2101G>T
Protein change:
E701*
Links:
dbSNP: rs2148737840
NCBI 1000 Genomes Browser:
rs2148737840
Molecular consequence:
  • NM_015001.3:c.2101G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001468520Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 3, 2020) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

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 Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV001468520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 23, 2024