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NM_001360.3(DHCR7):c.964-1G>T AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 29, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001538276.21

Allele description [Variation Report for NM_001360.3(DHCR7):c.964-1G>T]

NM_001360.3(DHCR7):c.964-1G>T

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.964-1G>T
HGVS:
  • NC_000011.10:g.71435840C>A
  • NG_012655.2:g.17592G>T
  • NM_001163817.2:c.964-1G>T
  • NM_001360.3:c.964-1G>TMANE SELECT
  • LRG_340t1:c.964-1G>T
  • LRG_340:g.17592G>T
  • NC_000011.9:g.71146886C>A
  • NM_001163817.1:c.964-1G>T
  • NM_001360.2:c.964-1G>T
Links:
dbSNP: rs138659167
NCBI 1000 Genomes Browser:
rs138659167
Molecular consequence:
  • NM_001163817.2:c.964-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001360.3:c.964-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755903GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 29, 2024) 		germlineclinical testing

Citation Link,

SCV002563076CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Dec 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001755903.4

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 25525159, 28166604, 11427181, 23042628, 20104611, 9653161, 21777499, 22929031)

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

From CeGaT Center for Human Genetics Tuebingen, SCV002563076.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024