NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 25, 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:
RCV003155298.1

Allele description [Variation Report for NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)]

NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)

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.1155C>T (p.Ala385=)
HGVS:
  • NC_000011.10:g.71435648G>A
  • NG_012655.2:g.17784C>T
  • NM_001163817.2:c.1155C>T
  • NM_001360.3:c.1155C>TMANE SELECT
  • NP_001157289.1:p.Ala385=
  • NP_001351.2:p.Ala385=
  • NP_001351.2:p.Ala385=
  • LRG_340t1:c.1155C>T
  • LRG_340:g.17784C>T
  • LRG_340p1:p.Ala385=
  • NC_000011.9:g.71146694G>A
  • NM_001360.2:c.1155C>T
Links:
dbSNP: rs777517985
NCBI 1000 Genomes Browser:
rs777517985
Molecular consequence:
  • NM_001163817.2:c.1155C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001360.3:c.1155C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844222Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 25, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844222.1

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

Last Updated: Sep 29, 2024