NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 30, 2024
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:: RCV001083539.6

Allele description

NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)

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.950C>T (p.Thr317Met)

HGVS:

NC_000005.10:g.119496624C>T
NG_008182.1:g.49172C>T
NM_000414.4:c.950C>TMANE SELECT
NM_001199291.3:c.1025C>T
NM_001199292.2:c.896C>T
NM_001292027.2:c.878C>T
NM_001292028.2:c.530C>T
NM_001374497.1:c.941C>T
NM_001374498.1:c.950C>T
NM_001374499.1:c.623C>T
NM_001374500.1:c.509C>T
NM_001374501.1:c.539C>T
NM_001374502.1:c.539C>T
NM_001374503.1:c.539C>T
NP_000405.1:p.Thr317Met
NP_001186220.1:p.Thr342Met
NP_001186221.1:p.Thr299Met
NP_001278956.1:p.Thr293Met
NP_001278957.1:p.Thr177Met
NP_001361426.1:p.Thr314Met
NP_001361427.1:p.Thr317Met
NP_001361428.1:p.Thr208Met
NP_001361429.1:p.Thr170Met
NP_001361430.1:p.Thr180Met
NP_001361431.1:p.Thr180Met
NP_001361432.1:p.Thr180Met
NC_000005.9:g.118832319C>T
NM_000414.3:c.950C>T
NM_001199291.1:c.1025C>T
NR_164653.1:n.1047C>T
NR_164654.1:n.1315C>T

Protein change:

T170M

Links:

dbSNP: rs150326995

NCBI 1000 Genomes Browser:

rs150326995

Molecular consequence:

NM_000414.4:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001199291.3:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001199292.2:c.896C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001292027.2:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001292028.2:c.530C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374497.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374498.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374499.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374500.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374501.1:c.539C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374502.1:c.539C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374503.1:c.539C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_164653.1:n.1047C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164654.1:n.1315C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Bifunctional peroxisomal enzyme deficiency (DBIF)
Synonyms:: D-bifunctional protein deficiency; DBP deficiency; D-bifunctional enzyme deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515

Name:: Perrault syndrome
Synonyms:: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Identifiers:: MONDO: MONDO:0017312; MedGen: C0685838; Orphanet: 2855; OMIM: PS233400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001026555	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 30, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001026555

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 30, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001026555.5

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

#	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 16, 2024

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