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NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 9, 2017
Accession:
VCV000550727.1
Variation ID:
550727
Description:
single nucleotide variant
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NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg)

Allele ID
549246
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.33
Genomic location
20: 63698519 (GRCh38) GRCh38 UCSC
20: 62329872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.62329872G>A
NC_000020.11:g.63698519G>A
NM_003823.4:c.859G>A NP_003814.1:p.Gly287Arg missense
... more HGVS
Protein change
G287R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs917853575
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 9, 2017 RCV000665551.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RTEL1 - - GRCh38
GRCh37
- 535
RTEL1-TNFRSF6B - - - GRCh38 - 513
TNFRSF6B - - GRCh38
GRCh37
- 63

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
Dyskeratosis congenita, autosomal recessive, 5
Allele origin: unknown
Counsyl
Accession: SCV000789693.1
Submitted: (Jul 10, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019