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NM_001360.3(DHCR7):c.231C>T (p.Thr77=) AND History of neurodevelopmental disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 23, 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:
RCV000715281.2

Allele description

NM_001360.3(DHCR7):c.231C>T (p.Thr77=)

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.231C>T (p.Thr77=)
HGVS:
  • NC_000011.10:g.71444083G>A
  • NG_012655.2:g.9349C>T
  • NM_001163817.2:c.231C>T
  • NM_001360.3:c.231C>TMANE SELECT
  • NP_001157289.1:p.Thr77=
  • NP_001351.2:p.Thr77=
  • NP_001351.2:p.Thr77=
  • LRG_340t1:c.231C>T
  • LRG_340:g.9349C>T
  • LRG_340p1:p.Thr77=
  • NC_000011.9:g.71155129G>A
  • NM_001163817.1:c.231C>T
  • NM_001360.2:c.231C>T
  • NP_001351.2:p.(=)
  • p.Thr77Thr
Links:
dbSNP: rs4316537
NCBI 1000 Genomes Browser:
rs4316537
Molecular consequence:
  • NM_001163817.2:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001360.3:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846109Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Mar 23, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846109.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 23, 2022