Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_006214.4(PHYH):c.717C>T (p.Tyr239=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000167468.6
Variation ID:
167468
Description:
single nucleotide variant
Help

NM_006214.4(PHYH):c.717C>T (p.Tyr239=)

Allele ID
177946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 13283801 (GRCh38) GRCh38 UCSC
10: 13325801 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.13325801G>A
NC_000010.11:g.13283801G>A
NG_012862.1:g.21330C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:13283800:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00249
Exome Aggregation Consortium (ExAC) 0.00082
Trans-Omics for Precision Medicine (TOPMed) 0.00252
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00254
1000 Genomes Project 0.00260
Links
ClinGen: CA180294
dbSNP: rs142720126
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Apr 28, 2014 RCV000153695.4
Likely benign 1 criteria provided, single submitter Jun 28, 2017 RCV000625408.2
Benign 2 criteria provided, single submitter Nov 30, 2020 RCV000676010.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PHYH - - GRCh38
GRCh37
179 201

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Phytanic acid storage disease
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745258.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Apr 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203252.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001024025.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 14, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000801742.1
Submitted: (May 23, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001918051.1
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PHYH - - - -

Text-mined citations for rs142720126...

Help
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 Oct 16, 2021