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NM_005591.4(MRE11):c.1222dup (p.Thr408fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761797.10

Allele description [Variation Report for NM_005591.4(MRE11):c.1222dup (p.Thr408fs)]

NM_005591.4(MRE11):c.1222dup (p.Thr408fs)

Gene:
MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q21
Genomic location:
Preferred name:
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)
HGVS:
  • NC_000011.10:g.94464121dup
  • NG_007261.1:g.34759dup
  • NM_001330347.2:c.1222dup
  • NM_005590.4:c.1222dup
  • NM_005591.4:c.1222dupMANE SELECT
  • NP_001317276.1:p.Thr408fs
  • NP_005581.2:p.Thr408fs
  • NP_005582.1:p.Thr408fs
  • LRG_85:g.34759dup
  • NC_000011.9:g.94197281_94197282insT
  • NC_000011.9:g.94197287dup
  • NM_005591.3:c.1222dupA
  • p.T408NFS*49
Protein change:
T408fs
Links:
dbSNP: rs774440500
NCBI 1000 Genomes Browser:
rs774440500
Molecular consequence:
  • NM_001330347.2:c.1222dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005590.4:c.1222dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005591.4:c.1222dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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
SCV000891994CeGaT Center for Human Genetics Tuebingencriteria provided, single submitter
Likely pathogenic
(May 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000891994.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jan 21, 2023