NM_000527.5(LDLR):c.2100C>T (p.Asp700=) AND Familial hypercholesterolemia 1

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000527.5(LDLR):c.2100C>T (p.Asp700=)]

NM_000527.5(LDLR):c.2100C>T (p.Asp700=)

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
  • NC_000019.10:g.11120482C>T
  • NG_009060.1:g.36102C>T
  • NM_000527.5:c.2100C>TMANE SELECT
  • NM_001195798.2:c.2100C>T
  • NM_001195799.2:c.1977C>T
  • NM_001195800.2:c.1596C>T
  • NM_001195803.2:c.1606+249C>T
  • NP_000518.1:p.Asp700=
  • NP_001182727.1:p.Asp700=
  • NP_001182728.1:p.Asp659=
  • NP_001182729.1:p.Asp532=
  • LRG_274t1:c.2100C>T
  • LRG_274:g.36102C>T
  • NC_000019.9:g.11231158C>T
  • NM_000527.4:c.2100C>T
dbSNP: rs759858813
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001195803.2:c.1606+249C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.2100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195798.2:c.2100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195799.2:c.1977C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195800.2:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]


Familial hypercholesterolemia 1 (FHCL1)
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001286050Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
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 Illumina Clinical Services Laboratory,Illumina, SCV001286050.1

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


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 27, 2021

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