NM_194456.1(KRIT1):c.1470dup (p.Leu491fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 10, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000721844.1

Allele description [Variation Report for NM_194456.1(KRIT1):c.1470dup (p.Leu491fs)]

NM_194456.1(KRIT1):c.1470dup (p.Leu491fs)

Gene:
KRIT1:KRIT1 ankyrin repeat containing [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_194456.1(KRIT1):c.1470dup (p.Leu491fs)
HGVS:
  • NC_000007.14:g.92221995dup
  • NG_012964.1:g.29106dup
  • NM_001013406.2:c.1326dup
  • NM_001350669.1:c.1326dup
  • NM_001350670.1:c.1326dup
  • NM_001350671.1:c.756dup
  • NM_001350672.1:c.1470dup
  • NM_001350673.1:c.1470dup
  • NM_001350674.1:c.1470dup
  • NM_001350675.1:c.1470dup
  • NM_001350676.1:c.1470dup
  • NM_001350677.1:c.1470dup
  • NM_001350678.1:c.1470dup
  • NM_001350679.1:c.1470dup
  • NM_001350680.1:c.1470dup
  • NM_001350681.1:c.1470dup
  • NM_001350682.1:c.1470dup
  • NM_001350683.1:c.1470dup
  • NM_001350684.1:c.1470dup
  • NM_001350685.1:c.1470dup
  • NM_001350686.1:c.1470dup
  • NM_001350687.1:c.1470dup
  • NM_001350688.1:c.1470dup
  • NM_001350689.1:c.1470dup
  • NM_001350690.1:c.1470dup
  • NM_001350691.1:c.1470dup
  • NM_001350692.1:c.1470dup
  • NM_001350693.1:c.1470dup
  • NM_001350694.1:c.1470dup
  • NM_001350695.1:c.1470dup
  • NM_001350696.1:c.1470dup
  • NM_001350697.1:c.1470dup
  • NM_004912.4:c.1470dup
  • NM_194454.2:c.1470dup
  • NM_194455.1:c.1470dup
  • NM_194456.1:c.1470dup
  • NP_001013424.1:p.Leu443fs
  • NP_001337598.1:p.Leu443fs
  • NP_001337599.1:p.Leu443fs
  • NP_001337600.1:p.Leu253fs
  • NP_001337601.1:p.Leu491fs
  • NP_001337602.1:p.Leu491fs
  • NP_001337603.1:p.Leu491fs
  • NP_001337604.1:p.Leu491fs
  • NP_001337605.1:p.Leu491fs
  • NP_001337606.1:p.Leu491fs
  • NP_001337607.1:p.Leu491fs
  • NP_001337608.1:p.Leu491fs
  • NP_001337609.1:p.Leu491fs
  • NP_001337610.1:p.Leu491fs
  • NP_001337611.1:p.Leu491fs
  • NP_001337612.1:p.Leu491fs
  • NP_001337613.1:p.Leu491fs
  • NP_001337614.1:p.Leu491fs
  • NP_001337615.1:p.Leu491fs
  • NP_001337616.1:p.Leu491fs
  • NP_001337617.1:p.Leu491fs
  • NP_001337618.1:p.Leu491fs
  • NP_001337619.1:p.Leu491fs
  • NP_001337620.1:p.Leu491fs
  • NP_001337621.1:p.Leu491fs
  • NP_001337622.1:p.Leu491fs
  • NP_001337623.1:p.Leu491fs
  • NP_001337624.1:p.Leu491fs
  • NP_001337625.1:p.Leu491fs
  • NP_001337626.1:p.Leu491fs
  • NP_004903.2:p.Leu491fs
  • NP_919436.1:p.Leu491fs
  • NP_919437.1:p.Leu491fs
  • NP_919438.1:p.Leu491fs
  • LRG_650t1:c.1470dup
  • LRG_650:g.29106dup
  • LRG_650p1:p.Leu491fs
  • NC_000007.13:g.91851309dup
  • NM_194456.1:c.1470dupA
Links:
dbSNP: rs1563263604
NCBI 1000 Genomes Browser:
rs1563263604
Molecular consequence:
  • NM_001013406.2:c.1326dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350669.1:c.1326dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350670.1:c.1326dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350671.1:c.756dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350672.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350673.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350674.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350675.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350676.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350677.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350678.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350679.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350680.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350681.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350682.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350683.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350684.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350685.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350686.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350687.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350688.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350689.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350690.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350691.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350692.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350693.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350694.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350695.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350696.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350697.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004912.4:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194454.2:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194455.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194456.1:c.1470dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000852989PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely pathogenic
(Oct 10, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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 PreventionGenetics,PreventionGenetics, SCV000852989.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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