NM_006214.4(PHYH):c.415-11del AND Phytanic acid storage disease

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000261842.5

Allele description [Variation Report for NM_006214.4(PHYH):c.415-11del]

NM_006214.4(PHYH):c.415-11del

Gene:

PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_006214.4(PHYH):c.415-11del

HGVS:

NC_000010.11:g.13291932del
NG_012862.1:g.13208del
NM_001037537.2:c.115-11del
NM_001323080.2:c.115-11del
NM_001323082.2:c.415-11del
NM_001323083.2:c.414+2505del
NM_001323084.2:c.115-11del
NM_006214.4:c.415-11delMANE SELECT
NC_000010.10:g.13333923del
NC_000010.10:g.13333932del
NM_006214.3:c.415-11delT

Links:

dbSNP: rs140309981

NCBI 1000 Genomes Browser:

rs140309981

Molecular consequence:

NM_001037537.2:c.115-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001323080.2:c.115-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001323082.2:c.415-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001323083.2:c.414+2505del - intron variant - [Sequence Ontology: SO:0001627]
NM_001323084.2:c.115-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_006214.4:c.415-11del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Phytanic acid storage disease
Synonyms:: HMSN IV; REFSUM DISEASE, CLASSIC; Disorder of cornification 11 (phytanic acid type); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009958; MedGen: C0034960; Orphanet: 773; OMIM: 266500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000361485	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000361485

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000361485.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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