NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Jul 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717684.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)]

NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)

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.70G>T (p.Ala24Ser)
HGVS:
  • NC_000011.10:g.71444883C>A
  • NG_012655.2:g.8549G>T
  • NM_001163817.2:c.70G>T
  • NM_001360.3:c.70G>TMANE SELECT
  • NP_001157289.1:p.Ala24Ser
  • NP_001351.2:p.Ala24Ser
  • LRG_340t1:c.70G>T
  • LRG_340:g.8549G>T
  • LRG_340p1:p.Ala24Ser
  • NC_000011.9:g.71155929C>A
  • NM_001360.2:c.70G>T
Protein change:
A24S
Links:
dbSNP: rs146867923
NCBI 1000 Genomes Browser:
rs146867923
Molecular consequence:
  • NM_001163817.2:c.70G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360.3:c.70G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848540Ambry Geneticscriteria provided, single submitter
Likely benign
(Jul 31, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848540.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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