NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 21, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000414484.1

Allele description [Variation Report for NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)]

NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)

Gene:
KRIT1:KRIT1 ankyrin repeat containing [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
HGVS:
  • NC_000007.14:g.92225773GTTT[1]
  • NG_012964.1:g.25324CAAA[1]
  • NM_001013406.2:c.1057_1060del
  • NM_001350669.1:c.1057_1060del
  • NM_001350670.1:c.1057_1060del
  • NM_001350671.1:c.487_490del
  • NM_001350672.1:c.1201_1204del
  • NM_001350673.1:c.1201_1204del
  • NM_001350674.1:c.1201_1204del
  • NM_001350675.1:c.1201_1204del
  • NM_001350676.1:c.1201_1204del
  • NM_001350677.1:c.1201_1204del
  • NM_001350678.1:c.1201_1204del
  • NM_001350679.1:c.1201_1204del
  • NM_001350680.1:c.1201_1204del
  • NM_001350681.1:c.1201_1204del
  • NM_001350682.1:c.1201_1204del
  • NM_001350683.1:c.1201_1204del
  • NM_001350684.1:c.1201_1204del
  • NM_001350685.1:c.1201_1204del
  • NM_001350686.1:c.1201_1204del
  • NM_001350687.1:c.1201_1204del
  • NM_001350688.1:c.1201_1204del
  • NM_001350689.1:c.1201_1204del
  • NM_001350690.1:c.1201_1204del
  • NM_001350691.1:c.1201_1204del
  • NM_001350692.1:c.1201_1204del
  • NM_001350693.1:c.1201_1204del
  • NM_001350694.1:c.1201_1204del
  • NM_001350695.1:c.1201_1204del
  • NM_001350696.1:c.1201_1204del
  • NM_001350697.1:c.1201_1204del
  • NM_004912.4:c.1201_1204del
  • NM_194454.3:c.1201_1204delMANE SELECT
  • NM_194455.1:c.1201_1204del
  • NM_194456.1:c.1201_1204del
  • NP_001013424.1:p.Gln353fs
  • NP_001337598.1:p.Gln353fs
  • NP_001337599.1:p.Gln353fs
  • NP_001337600.1:p.Gln163fs
  • NP_001337601.1:p.Gln401fs
  • NP_001337602.1:p.Gln401fs
  • NP_001337603.1:p.Gln401fs
  • NP_001337604.1:p.Gln401fs
  • NP_001337605.1:p.Gln401fs
  • NP_001337606.1:p.Gln401fs
  • NP_001337607.1:p.Gln401fs
  • NP_001337608.1:p.Gln401fs
  • NP_001337609.1:p.Gln401fs
  • NP_001337610.1:p.Gln401fs
  • NP_001337611.1:p.Gln401fs
  • NP_001337612.1:p.Gln401fs
  • NP_001337613.1:p.Gln401fs
  • NP_001337614.1:p.Gln401fs
  • NP_001337615.1:p.Gln401fs
  • NP_001337616.1:p.Gln401fs
  • NP_001337617.1:p.Gln401fs
  • NP_001337618.1:p.Gln401fs
  • NP_001337619.1:p.Gln401fs
  • NP_001337620.1:p.Gln401fs
  • NP_001337621.1:p.Gln401fs
  • NP_001337622.1:p.Gln401fs
  • NP_001337623.1:p.Gln401fs
  • NP_001337624.1:p.Gln401fs
  • NP_001337625.1:p.Gln401fs
  • NP_001337626.1:p.Gln401fs
  • NP_004903.2:p.Gln401fs
  • NP_919436.1:p.Gln401fs
  • NP_919437.1:p.Gln401fs
  • NP_919438.1:p.Gln401fs
  • LRG_650t1:c.1201_1204del
  • LRG_650:g.25324CAAA[1]
  • LRG_650p1:p.Gln401fs
  • NC_000007.13:g.91855084_91855087del
  • NC_000007.13:g.91855087GTTT[1]
  • NM_004912.3:c.1201_1204delCAAA
  • NM_194456.1:c.1201_1204delCAAA
Protein change:
Q163fs
Links:
dbSNP: rs1057517753
NCBI 1000 Genomes Browser:
rs1057517753
Molecular consequence:
  • NM_001013406.2:c.1057_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350669.1:c.1057_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350670.1:c.1057_1060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350671.1:c.487_490del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350672.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350673.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350674.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350675.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350676.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350677.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350678.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350679.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350680.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350681.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350682.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350683.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350684.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350685.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350686.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350687.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350688.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350689.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350690.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350691.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350692.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350693.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350694.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350695.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350696.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350697.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004912.4:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194454.3:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194455.1:c.1201_1204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_194456.1:c.1201_1204del - 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
SCV000490587GeneDxcriteria provided, single submitter
Pathogenic
(Nov 21, 2016)
germlineclinical testing

Citation Link,

SCV000852966PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Pathogenic
(Jun 14, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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 GeneDx, SCV000490587.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1201_1204delCAAA pathogenic variant in the KRIT1 gene has been previously reported in patients with CCM (Rajakulendran et al., 2011; Zhao et al., 2011). The c.1201_1204delCAAA variant causes a frameshift starting with codon Glutamine 401, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Gln401ThrfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, c.1201_1204delCAAA is considered a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000852966.1

#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: Jun 23, 2021

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