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NM_199242.2(UNC13D):c.2896C>T (p.Arg966Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 27, 2017
Accession:
VCV000263237.1
Variation ID:
263237
Description:
single nucleotide variant
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NM_199242.2(UNC13D):c.2896C>T (p.Arg966Trp)

Allele ID
256418
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.1
Genomic location
17: 75830086 (GRCh38) GRCh38 UCSC
17: 73826167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.73826167G>A
NC_000017.11:g.75830086G>A
NM_199242.2:c.2896C>T NP_954712.1:p.Arg966Trp
... more HGVS
Protein change
R966W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00509
The Genome Aggregation Database (gnomAD), exomes 0.00440
The Genome Aggregation Database (gnomAD) 0.00365
1000 Genomes Project 0.00180
Exome Aggregation Consortium (ExAC) 0.00959
Trans-Omics for Precision Medicine (TOPMed) 0.00330
Links
dbSNP: rs118049905
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000242082.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000322265.1
Benign 1 criteria provided, single submitter Nov 27, 2017 RCV000542743.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UNC13D - - GRCh38
GRCh37
200 226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics
Accession: SCV000317128.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Hemophagocytic Lymphohistiocytosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000406642.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Nov 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hemophagocytic lymphohistiocytosis, familial, 3
Allele origin: germline
Invitae
Accession: SCV000638955.2
Submitted: (Apr 02, 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 Aug 29, 2019