NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 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:: RCV000454439.4

Allele description [Variation Report for NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)]

NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)

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.638G>C (p.Ser213Thr)

HGVS:

NC_000019.10:g.11105544G>C
NG_009060.1:g.21164G>C
NM_000527.5:c.638G>CMANE SELECT
NM_001195798.2:c.638G>C
NM_001195799.2:c.515G>C
NM_001195800.2:c.314-1848G>C
NM_001195803.2:c.314-1021G>C
NP_000518.1:p.Ser213Thr
NP_000518.1:p.Ser213Thr
NP_001182727.1:p.Ser213Thr
NP_001182728.1:p.Ser172Thr
LRG_274t1:c.638G>C
LRG_274:g.21164G>C
LRG_274p1:p.Ser213Thr
NC_000019.9:g.11216220G>C
NM_000527.4:c.638G>C
c.638G>C

Protein change:

S172T

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000723; dbSNP: rs879254604

NCBI 1000 Genomes Browser:

rs879254604

Molecular consequence:

NM_001195800.2:c.314-1848G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1021G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.638G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.638G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000539521	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Oct 31, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000539521

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Oct 31, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539521.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is not present in ExAC. It was seen in one patient with FH. It is classified in ClinVar with 1 star as Likely Benign by The British Heart Foundation. The region is not conserved but no species have a Thr at this position.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 19, 2025

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