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NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) AND Athabaskan severe combined immunodeficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 12, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001831916.9

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)]

NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)

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.959C>G (p.Ser320Cys)
Other names:
p.S320C:TCC>TGC; NM_001033855.3(DCLRE1C):c.959C>G
HGVS:
  • NC_000010.11:g.14926856G>C
  • NG_007276.1:g.32240C>G
  • NM_001033855.3:c.959C>GMANE SELECT
  • NM_001033857.3:c.599C>G
  • NM_001033858.3:c.599C>G
  • NM_001289076.2:c.614C>G
  • NM_001289077.2:c.599C>G
  • NM_001289078.2:c.614C>G
  • NM_001289079.2:c.599C>G
  • NM_001350965.2:c.959C>G
  • NM_001350966.2:c.614C>G
  • NM_001350967.2:c.599C>G
  • NM_022487.4:c.614C>G
  • NP_001029027.1:p.Ser320Cys
  • NP_001029029.1:p.Ser200Cys
  • NP_001029030.1:p.Ser200Cys
  • NP_001276005.1:p.Ser205Cys
  • NP_001276006.1:p.Ser200Cys
  • NP_001276007.1:p.Ser205Cys
  • NP_001276008.1:p.Ser200Cys
  • NP_001337894.1:p.Ser320Cys
  • NP_001337895.1:p.Ser205Cys
  • NP_001337896.1:p.Ser200Cys
  • NP_071932.2:p.Ser205Cys
  • LRG_54t1:c.959C>G
  • LRG_54:g.32240C>G
  • NC_000010.10:g.14968855G>C
  • NM_001033855.1:c.959C>G
  • NM_001033855.2:c.959C>G
  • NM_022487.2:c.614C>G
  • NR_110297.2:n.1257C>G
  • NR_146961.2:n.1074C>G
  • NR_146962.1:n.1381C>G
  • Q96SD1:p.Ser320Cys
Protein change:
S200C
Links:
UniProtKB: Q96SD1#VAR_048894; dbSNP: rs41298896
NCBI 1000 Genomes Browser:
rs41298896
Molecular consequence:
  • NM_001033855.3:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033857.3:c.599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033858.3:c.599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289076.2:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289077.2:c.599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289078.2:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289079.2:c.599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350965.2:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350966.2:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350967.2:c.599C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022487.4:c.614C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110297.2:n.1257C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146961.2:n.1074C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146962.1:n.1381C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Athabaskan severe combined immunodeficiency (SCIDA)
Synonyms:
Severe combined immunodeficiency, athabascan-type
Identifiers:
MedGen: C1865371

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002082295Natera, Inc.
no assertion criteria provided
Likely benign
(Nov 12, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002082295.1

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

Last Updated: Jul 15, 2024