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NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 2019
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:
RCV000506112.17

Allele description [Variation Report for NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)]

NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)

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.1280C>T (p.Ala427Val)
HGVS:
  • NC_000005.10:g.119506836C>T
  • NG_008182.1:g.59384C>T
  • NM_000414.4:c.1280C>TMANE SELECT
  • NM_001199291.3:c.1355C>T
  • NM_001199292.2:c.1226C>T
  • NM_001292027.2:c.1208C>T
  • NM_001292028.2:c.860C>T
  • NP_000405.1:p.Ala427Val
  • NP_001186220.1:p.Ala452Val
  • NP_001186221.1:p.Ala409Val
  • NP_001278956.1:p.Ala403Val
  • NP_001278957.1:p.Ala287Val
  • NC_000005.9:g.118842531C>T
  • NM_000414.3:c.1280C>T
Protein change:
A287V
Links:
dbSNP: rs28943590
NCBI 1000 Genomes Browser:
rs28943590
Molecular consequence:
  • NM_000414.4:c.1280C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.1355C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199292.2:c.1226C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292027.2:c.1208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292028.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001365869Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Aug 27, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV001365869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Ala452Val variant in HSD17B4 has not been previously reported in individuals with Perrault syndrome, but has been identified in 0.2% (83/35360) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Jul 15, 2024