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NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 29, 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:
RCV002316237.9

Allele description [Variation Report for NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)]

NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)

Gene:
DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
HGVS:
  • NC_000011.10:g.71435435G>A
  • NG_012655.2:g.17997C>T
  • NM_001163817.2:c.1368C>T
  • NM_001360.3:c.1368C>TMANE SELECT
  • NP_001157289.1:p.Gly456=
  • NP_001351.2:p.Gly456=
  • NP_001351.2:p.Gly456=
  • LRG_340t1:c.1368C>T
  • LRG_340:g.17997C>T
  • LRG_340p1:p.Gly456=
  • NC_000011.9:g.71146481G>A
  • NM_001360.2:c.1368C>T
  • NP_001351.2:p.(=)
Links:
dbSNP: rs144562471
NCBI 1000 Genomes Browser:
rs144562471
Molecular consequence:
  • NM_001163817.2:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001360.3:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000850122Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Likely benign
    (Jul 29, 2016)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

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

    Details of each submission

    From Ambry Genetics, SCV000850122.5

    #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: Oct 13, 2024