NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 29, 2023
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:: RCV000676084.22

Allele description [Variation Report for NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)]

NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)

Gene:

HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.1

Genomic location:

Preferred name:

NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)

HGVS:

NC_000005.10:g.119526018A>G
NG_008182.1:g.78566A>G
NM_000414.4:c.1675A>GMANE SELECT
NM_001199291.3:c.1750A>G
NM_001199292.2:c.1621A>G
NM_001292027.2:c.1603A>G
NM_001292028.2:c.1255A>G
NM_001374497.1:c.1666A>G
NM_001374498.1:c.1603A>G
NM_001374499.1:c.1348A>G
NM_001374500.1:c.1234A>G
NM_001374501.1:c.1264A>G
NM_001374502.1:c.1264A>G
NM_001374503.1:c.1264A>G
NP_000405.1:p.Ile559Val
NP_001186220.1:p.Ile584Val
NP_001186221.1:p.Ile541Val
NP_001278956.1:p.Ile535Val
NP_001278957.1:p.Ile419Val
NP_001361426.1:p.Ile556Val
NP_001361427.1:p.Ile535Val
NP_001361428.1:p.Ile450Val
NP_001361429.1:p.Ile412Val
NP_001361430.1:p.Ile422Val
NP_001361431.1:p.Ile422Val
NP_001361432.1:p.Ile422Val
NC_000005.9:g.118861713A>G
NM_000414.3:c.1675A>G
NM_001199291.1:c.1750A>G
NR_164653.1:n.1772A>G
NR_164654.1:n.2040A>G
P51659:p.Ile559Val

Protein change:

I412V

Links:

UniProtKB: P51659#VAR_014874; dbSNP: rs11205

NCBI 1000 Genomes Browser:

rs11205

Molecular consequence:

NM_000414.4:c.1675A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001199291.3:c.1750A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001199292.2:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001292027.2:c.1603A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001292028.2:c.1255A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374497.1:c.1666A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374498.1:c.1603A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374499.1:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374500.1:c.1234A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374501.1:c.1264A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374502.1:c.1264A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374503.1:c.1264A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164653.1:n.1772A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164654.1:n.2040A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC123230243 [Mangifera indica]
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Gene ID:123230243

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000801820	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Oct 23, 2015)	unknown	clinical testing
SCV001158877	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000801820

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Oct 23, 2015)

unknown

clinical testing

SCV001158877

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 29, 2023)

germline

clinical testing

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801820.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158877.8

#	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: May 26, 2024

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