NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000539574.7

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)]

NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)

Gene:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
HGVS:
  • NC_000010.11:g.14909203T>G
  • NG_007276.1:g.49893A>C
  • NM_001033855.3:c.1284A>CMANE SELECT
  • NM_001033857.3:c.924A>C
  • NM_001033858.3:c.924A>C
  • NM_001289076.2:c.939A>C
  • NM_001289077.2:c.924A>C
  • NM_001289078.2:c.939A>C
  • NM_001289079.2:c.924A>C
  • NM_001350965.2:c.1284A>C
  • NM_001350966.2:c.939A>C
  • NM_001350967.2:c.924A>C
  • NM_022487.4:c.939A>C
  • NP_001029027.1:p.Lys428Asn
  • NP_001029029.1:p.Lys308Asn
  • NP_001029030.1:p.Lys308Asn
  • NP_001276005.1:p.Lys313Asn
  • NP_001276006.1:p.Lys308Asn
  • NP_001276007.1:p.Lys313Asn
  • NP_001276008.1:p.Lys308Asn
  • NP_001337894.1:p.Lys428Asn
  • NP_001337895.1:p.Lys313Asn
  • NP_001337896.1:p.Lys308Asn
  • NP_071932.2:p.Lys313Asn
  • LRG_54t1:c.1284A>C
  • LRG_54:g.49893A>C
  • NC_000010.10:g.14951202T>G
  • NM_001033855.1:c.1284A>C
  • NM_001033855.2:c.1284A>C
  • NR_110297.2:n.1723A>C
  • NR_146960.1:n.1651A>C
  • NR_146961.2:n.1464A>C
  • NR_146962.1:n.1771A>C
Protein change:
K308N
Links:
dbSNP: rs113870881
NCBI 1000 Genomes Browser:
rs113870881
Molecular consequence:
  • NM_001033855.3:c.1284A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033857.3:c.924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033858.3:c.924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289076.2:c.939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289077.2:c.924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289078.2:c.939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289079.2:c.924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350965.2:c.1284A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350966.2:c.939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350967.2:c.924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022487.4:c.939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110297.2:n.1723A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146960.1:n.1651A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146961.2:n.1464A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146962.1:n.1771A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001147831CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2016)
germlineclinical testing

Citation Link,

SCV001929576Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001967360Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001147831.7

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929576.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967360.1

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

Last Updated: Oct 8, 2021

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