NM_000527.5(LDLR):c.108C>T (p.Asp36=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001201281.1

Allele description [Variation Report for NM_000527.5(LDLR):c.108C>T (p.Asp36=)]

NM_000527.5(LDLR):c.108C>T (p.Asp36=)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.108C>T (p.Asp36=)
HGVS:
  • NC_000019.10:g.11100263C>T
  • NG_009060.1:g.15883C>T
  • NM_000527.4:c.108C>T
  • NM_000527.5:c.108C>TMANE SELECT
  • NM_001195798.2:c.108C>T
  • NM_001195799.2:c.108C>T
  • NM_001195800.2:c.108C>T
  • NM_001195803.2:c.108C>T
  • NP_000518.1:p.Asp36=
  • NP_000518.1:p.Asp36=
  • NP_001182727.1:p.Asp36=
  • NP_001182728.1:p.Asp36=
  • NP_001182729.1:p.Asp36=
  • NP_001182732.1:p.Asp36=
  • LRG_274t1:c.108C>T
  • LRG_274:g.15883C>T
  • LRG_274p1:p.Asp36=
  • NC_000019.9:g.11210939C>T
Links:
dbSNP: rs373144619
NCBI 1000 Genomes Browser:
rs373144619
Molecular consequence:
  • NM_000527.4:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000527.5:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195798.2:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195799.2:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195800.2:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195803.2:c.108C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001372400Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Jun 29, 2020)
germlineclinical testing

Citation Link

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, SCV001372400.1

#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: Oct 30, 2021

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