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NM_001193424.2(SUV39H2):c.850-305C>T AND Severe combined immunodeficiency due to DCLRE1C deficiency

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 30, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001661372.11

Allele description [Variation Report for NM_001193424.2(SUV39H2):c.850-305C>T]

NM_001193424.2(SUV39H2):c.850-305C>T

Genes:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
SUV39H2:SUV39H2 histone lysine methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001193424.2(SUV39H2):c.850-305C>T
HGVS:
  • NC_000010.11:g.14899234C>T
  • NM_001193424.2:c.850-305C>TMANE SELECT
  • NM_001193425.2:c.670-305C>T
  • NM_001193426.2:c.310-305C>T
  • NM_001193427.2:c.130-305C>T
  • NM_001350965.2:c.*16G>A
  • NM_001350966.2:c.*16G>A
  • NM_001350967.2:c.*16G>A
  • NM_024670.4:c.670-305C>T
  • NC_000010.10:g.14941233C>T
  • NM_001350965.1:c.*16G>A
  • NR_146960.1:n.2228G>A
Links:
dbSNP: rs60006238
NCBI 1000 Genomes Browser:
rs60006238
Molecular consequence:
  • NM_001350965.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350966.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350967.2:c.*16G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001193424.2:c.850-305C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193425.2:c.670-305C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193426.2:c.310-305C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193427.2:c.130-305C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024670.4:c.670-305C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_146960.1:n.2228G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe combined immunodeficiency due to DCLRE1C deficiency (RS-SCID)
Synonyms:
Severe combined immunodeficiency with sensitivity to ionizing radiation; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
Identifiers:
MONDO: MONDO:0011225; MedGen: C1865370; Orphanet: 275; OMIM: 602450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001876574Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 30, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001876574.1

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

Last Updated: Nov 3, 2024