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NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 13, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001507776.7

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)]

NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)

Gene:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
HGVS:
  • NC_000010.11:g.14908589dup
  • NG_007276.1:g.50512dup
  • NM_001033855.3:c.1903dupMANE SELECT
  • NM_001033857.3:c.1543dup
  • NM_001033858.3:c.1543dup
  • NM_001289076.2:c.1558dup
  • NM_001289077.2:c.1543dup
  • NM_001289078.2:c.1558dup
  • NM_001289079.2:c.1543dup
  • NM_001350965.2:c.1782+116dup
  • NM_001350966.2:c.1437+116dup
  • NM_001350967.2:c.1422+116dup
  • NM_022487.4:c.1558dup
  • NP_001029027.1:p.Ser635fs
  • NP_001029029.1:p.Ser515fs
  • NP_001029030.1:p.Ser515fs
  • NP_001276005.1:p.Ser520fs
  • NP_001276006.1:p.Ser515fs
  • NP_001276007.1:p.Ser520fs
  • NP_001276008.1:p.Ser515fs
  • NP_071932.2:p.Ser520fs
  • LRG_54t1:c.1903dup
  • LRG_54:g.50512dup
  • NC_000010.10:g.14950582_14950583insT
  • NC_000010.10:g.14950588dup
  • NM_001033855.1:c.1903dupA
  • NM_001033855.2:c.1903dup
  • NM_001033855.2:c.1903dupA
  • NR_110297.2:n.2342dup
  • NR_146961.2:n.2083dup
  • NR_146962.1:n.2390dup
Protein change:
S515fs
Links:
dbSNP: rs760288938
NCBI 1000 Genomes Browser:
rs760288938
Molecular consequence:
  • NM_001033855.3:c.1903dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033857.3:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033858.3:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289076.2:c.1558dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289077.2:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289078.2:c.1558dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289079.2:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022487.4:c.1558dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350965.2:c.1782+116dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350966.2:c.1437+116dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350967.2:c.1422+116dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110297.2:n.2342dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146961.2:n.2083dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146962.1:n.2390dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001713537Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 13, 2020)
germlineclinical testing

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

SCV001780435GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Nov 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not 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 Mayo Clinic Laboratories, Mayo Clinic, SCV001713537.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001780435.1

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

Description

Frameshift variant predicted to result in protein truncation as the last 58 amino acids are lost and replaced with 5 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Observed previously in one patient with breast cancer (Lhota et al., 2016); This variant is associated with the following publications: (PMID: 33206719, 26822949)

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

Last Updated: Feb 28, 2024