NM_003721.4(RFXANK):c.271+1G>C AND Bare lymphocyte syndrome 2

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001261596.2

Allele description [Variation Report for NM_003721.4(RFXANK):c.271+1G>C]

NM_003721.4(RFXANK):c.271+1G>C

Gene:
RFXANK:regulatory factor X associated ankyrin containing protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_003721.4(RFXANK):c.271+1G>C
HGVS:
  • NC_000019.10:g.19197047G>C
  • NG_007432.1:g.9849G>C
  • NM_001278727.1:c.271+1G>C
  • NM_001278728.1:c.268+1G>C
  • NM_001370233.1:c.271+1G>C
  • NM_001370234.1:c.271+1G>C
  • NM_001370235.1:c.268+1G>C
  • NM_001370236.1:c.268+1G>C
  • NM_001370237.1:c.268+1G>C
  • NM_001370238.1:c.271+1G>C
  • NM_003721.4:c.271+1G>CMANE SELECT
  • NM_134440.2:c.268+1G>C
  • LRG_102:g.9849G>C
  • NC_000019.9:g.19307856G>C
  • NM_003721.3:c.271+1G>C
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS4DS, G-C, +1
Links:
OMIM: 603200.0003; dbSNP: rs759667201
NCBI 1000 Genomes Browser:
rs759667201
Molecular consequence:
  • NM_001278727.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278728.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370233.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370234.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370235.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370236.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370237.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370238.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003721.4:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_134440.2:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Bare lymphocyte syndrome 2
Synonyms:
BARE LYMPHOCYTE SYNDROME, TYPE II; BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: 209920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438870Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link,

SCV001469138Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedPathogenic
(Aug 7, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Arabgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001469138.1

#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: Jan 25, 2021

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