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NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 15, 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:
RCV004023377.1

Allele description [Variation Report for NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)]

NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)

Gene:
HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)
HGVS:
  • NC_000023.11:g.53432345C>T
  • NG_008153.1:g.7031G>A
  • NG_033076.2:g.14491C>T
  • NM_001037811.2:c.259G>A
  • NM_004493.3:c.259G>AMANE SELECT
  • NP_001032900.1:p.Val87Ile
  • NP_004484.1:p.Val87Ile
  • NP_004484.1:p.Val87Ile
  • LRG_450t1:c.259G>A
  • LRG_450t2:c.259G>A
  • LRG_450:g.7031G>A
  • LRG_450p1:p.Val87Ile
  • LRG_450p2:p.Val87Ile
  • NC_000023.10:g.53459293C>T
  • NM_004493.2:c.259G>A
Protein change:
V87I
Links:
dbSNP: rs371014686
NCBI 1000 Genomes Browser:
rs371014686
Molecular consequence:
  • NM_001037811.2:c.259G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004493.3:c.259G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004884390Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004884390.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024