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NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 21, 2020
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:
RCV001800473.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)]

NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)

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.1195G>A (p.Ala399Thr)
Other names:
FH Nuoro
HGVS:
  • NC_000019.10:g.11113286G>A
  • NG_009060.1:g.28906G>A
  • NM_000527.5:c.1195G>AMANE SELECT
  • NM_001195798.2:c.1195G>A
  • NM_001195799.2:c.1072G>A
  • NM_001195800.2:c.691G>A
  • NM_001195803.2:c.814G>A
  • NP_000518.1:p.Ala399Thr
  • NP_000518.1:p.Ala399Thr
  • NP_001182727.1:p.Ala399Thr
  • NP_001182728.1:p.Ala358Thr
  • NP_001182729.1:p.Ala231Thr
  • NP_001182732.1:p.Ala272Thr
  • LRG_274t1:c.1195G>A
  • LRG_274:g.28906G>A
  • LRG_274p1:p.Ala399Thr
  • NC_000019.9:g.11223962G>A
  • NM_000527.4:c.1195G>A
  • c.1195G>A
Protein change:
A231T
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000534; dbSNP: rs730882099
NCBI 1000 Genomes Browser:
rs730882099
Molecular consequence:
  • NM_000527.5:c.1195G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1195G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence - Comment(s)

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
SCV002046305Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely pathogenic
(Oct 21, 2020)
unknownclinical testing

PubMed (15)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

Diakou M, Miltiadous G, Xenophontos SL, Manoli P, Cariolou MA, Elisaf M.

Eur J Intern Med. 2011 Oct;22(5):e55-9. doi: 10.1016/j.ejim.2011.01.003. Epub 2011 Feb 11.

PubMed [citation]
PMID:
21925044

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJ, Wiegman A.

Circulation. 2011 Mar 22;123(11):1167-73. doi: 10.1161/CIRCULATIONAHA.110.979450. Epub 2011 Mar 7.

PubMed [citation]
PMID:
21382890
See all PubMed Citations (15)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046305.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (15)

Description

This variant has been reported in individuals affected with familial hypercholesterolemia (FH) in the published literature (PMIDs: 10634824 (2000), 15241806 (2004), 16250003 (2005), 23375686 (2013), and 26723464 (2016)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is disease causing and damaging. A different variant located as the same amino acid posistion has been described as likely pathogenic and pathogenic. Based on the available information, the variant is predicted to be likely pathogenic.

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

Last Updated: Jan 19, 2025