Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_015346.3(ZFYVE26):c.2692A>T (p.Thr898Ser)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 26, 2018)
Last evaluated:
Jul 24, 2017
Accession:
VCV000313909.1
Variation ID:
313909
Description:
single nucleotide variant
Help

NM_015346.3(ZFYVE26):c.2692A>T (p.Thr898Ser)

Allele ID
330199
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q24.1
Genomic location
14: 67790635 (GRCh38) GRCh38 UCSC
14: 68257352 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.67790635T>A
NC_000014.8:g.68257352T>A
NM_015346.3:c.2692A>T NP_056161.2:p.Thr898Ser missense
NG_011836.1:g.30955A>T
Protein change
T898S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.04293 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.08203
Exome Aggregation Consortium (ExAC) 0.09030
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.08873
The Genome Aggregation Database (gnomAD), exomes 0.09227
The Genome Aggregation Database (gnomAD) 0.09382
1000 Genomes Project 0.04293
Links
dbSNP: rs17192170
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 24, 2017 RCV000434229.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000392341.1
Benign 1 criteria provided, single submitter Jan 23, 2017 RCV000461035.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ZFYVE26 - - GRCh38
GRCh37
321 349

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Spastic Paraplegia, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000388051.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jan 23, 2017)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV000556823.2
Submitted: (Mar 14, 2017)
Evidence details
Benign
(Jul 24, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000616310.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519739.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)

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 Mar 29, 2019