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NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) AND Familial hypercholesterolemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2019
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:
RCV001181687.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser)]

NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser)

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.1180G>T (p.Ala394Ser)
HGVS:
  • NC_000019.10:g.11111633G>T
  • NG_009060.1:g.27253G>T
  • NM_000527.5:c.1180G>TMANE SELECT
  • NM_001195798.2:c.1180G>T
  • NM_001195799.2:c.1057G>T
  • NM_001195800.2:c.676G>T
  • NM_001195803.2:c.799G>T
  • NP_000518.1:p.Ala394Ser
  • NP_001182727.1:p.Ala394Ser
  • NP_001182728.1:p.Ala353Ser
  • NP_001182729.1:p.Ala226Ser
  • NP_001182732.1:p.Ala267Ser
  • LRG_274t1:c.1180G>T
  • LRG_274:g.27253G>T
  • NC_000019.9:g.11222309G>T
  • NM_000527.4:c.1180G>T
Protein change:
A226S
Links:
dbSNP: rs2077379274
NCBI 1000 Genomes Browser:
rs2077379274
Molecular consequence:
  • NM_000527.5:c.1180G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1180G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1057G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.676G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.799G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001346881Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 4, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001346881.2

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

Description

Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Ala373Ser in the mature protein) replaces alanine with serine at codon 394 of the LDLR protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.

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

Last Updated: Sep 1, 2024