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NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 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:
RCV000363268.4

Allele description [Variation Report for NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)]

NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)

Genes:
LOC126806253:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:74057585-74058784 [Gene]
STAMBP:STAM binding protein [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)
HGVS:
  • NC_000002.12:g.73830962_73830964delinsAA
  • NG_033223.2:g.7052_7054delinsAA
  • NM_001353967.2:c.106_108delinsAA
  • NM_001353968.2:c.106_108delinsAA
  • NM_001353969.2:c.106_108delinsAA
  • NM_001353970.2:c.106_108delinsAA
  • NM_001353971.2:c.-448_-446delinsAA
  • NM_001353972.2:c.-203+1966_-203+1968delinsAA
  • NM_001353973.2:c.-448_-446delinsAA
  • NM_001353974.2:c.-448_-446delinsAA
  • NM_001353975.2:c.-448_-446delinsAA
  • NM_001353976.2:c.-448_-446delinsAA
  • NM_006463.6:c.106_108delinsAA
  • NM_201647.4:c.106_108delinsAA
  • NM_213622.4:c.106_108delinsAAMANE SELECT
  • NP_001340896.1:p.Tyr36fs
  • NP_001340897.1:p.Tyr36fs
  • NP_001340898.1:p.Tyr36fs
  • NP_001340899.1:p.Tyr36fs
  • NP_006454.1:p.Tyr36fs
  • NP_964010.1:p.Tyr36fs
  • NP_998787.1:p.Tyr36fs
  • NC_000002.11:g.74058089_74058091delinsAA
  • NR_148668.2:n.154_156delinsAA
  • NR_148669.2:n.154_156delinsAA
  • NR_148670.2:n.334_336delinsAA
  • NR_148671.2:n.668_670delinsAA
Protein change:
Y36fs
Links:
dbSNP: rs886043494
NCBI 1000 Genomes Browser:
rs886043494
Molecular consequence:
  • NM_001353971.2:c.-448_-446delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353973.2:c.-448_-446delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353974.2:c.-448_-446delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353975.2:c.-448_-446delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353976.2:c.-448_-446delinsAA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353967.2:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353968.2:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353969.2:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353970.2:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006463.6:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201647.4:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_213622.4:c.106_108delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353972.2:c.-203+1966_-203+1968delinsAA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148668.2:n.154_156delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148669.2:n.154_156delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148670.2:n.334_336delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148671.2:n.668_670delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000340398Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Pathogenic
(Mar 14, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340398.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023