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NM_001360.3(DHCR7):c.964-5C>T AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2022
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:
RCV002527349.2

Allele description [Variation Report for NM_001360.3(DHCR7):c.964-5C>T]

NM_001360.3(DHCR7):c.964-5C>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.964-5C>T
HGVS:
  • NC_000011.10:g.71435844G>A
  • NG_012655.2:g.17588C>T
  • NM_001163817.2:c.964-5C>T
  • NM_001360.3:c.964-5C>TMANE SELECT
  • LRG_340:g.17588C>T
  • NC_000011.9:g.71146890G>A
  • NM_001163817.1:c.964-5C>T
  • NM_001360.2:c.964-5C>T
Links:
dbSNP: rs767108226
NCBI 1000 Genomes Browser:
rs767108226
Molecular consequence:
  • NM_001163817.2:c.964-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001360.3:c.964-5C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV003624137Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 14, 2022) 		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, SCV003624137.2

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

Description

The c.964-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 9 (coding exon 7) of the DHCR7 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024