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NM_006214.4(PHYH):c.126A>G (p.Gln42=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000299260.7
Variation ID:
299260
Description:
single nucleotide variant
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NM_006214.4(PHYH):c.126A>G (p.Gln42=)

Allele ID
314643
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 13298195 (GRCh38) GRCh38 UCSC
10: 13340195 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.13340195T>C
NC_000010.11:g.13298195T>C
NG_012862.1:g.6936A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:13298194:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00361
Exome Aggregation Consortium (ExAC) 0.00366
1000 Genomes Project 0.00200
The Genome Aggregation Database (gnomAD) 0.00334
Trans-Omics for Precision Medicine (TOPMed) 0.00350
The Genome Aggregation Database (gnomAD), exomes 0.00364
Links
ClinGen: CA5412483
dbSNP: rs150631501
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000346566.3
Benign 3 criteria provided, multiple submitters, no conflicts Dec 3, 2020 RCV000960586.4
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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

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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: SCV000745262.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Phytanic acid storage disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000361492.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001107583.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001900701.1
Submitted: (Sep 19, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001922383.1
Submitted: (Sep 23, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs150631501...

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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 Sep 24, 2021