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

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 13, 2021)
Accession:
VCV000006599.3
Variation ID:
6599
Description:
single nucleotide variant
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NM_003721.4(RFXANK):c.271+1G>C

Allele ID
21638
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.11
Genomic location
19: 19197047 (GRCh38) GRCh38 UCSC
19: 19307856 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.19197047G>C
NC_000019.9:g.19307856G>C
NM_003721.4:c.271+1G>C MANE Select splice donor
... more HGVS
Protein change
-
Other names
IVS4DS, G-C, +1
Canonical SPDI
NC_000019.10:19197046:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 603200.0003
dbSNP: rs759667201
Varsome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter - RCV001261596.2
Pathogenic 1 no assertion criteria provided May 1, 2001 RCV000006978.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RFXANK - - GRCh38
GRCh37
108 133

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Bare lymphocyte syndrome 2
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438870.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(May 01, 2001)
no assertion criteria provided
Method: literature only
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B
Allele origin: germline
OMIM
Accession: SCV000027174.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 07, 2020)
no assertion criteria provided
Method: clinical testing
Bare lymphocyte syndrome 2
Allele origin: germline
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
Accession: SCV001469138.1
Submitted: (Jan 13, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. Lennon-Duménil AM Journal of immunology (Baltimore, Md. : 1950) 2001 PMID: 11313409

Text-mined citations for rs759667201...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 25, 2021