NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: May 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000162011.38

Allele description [Variation Report for NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)]

NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)

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.2177C>T (p.Thr726Ile)

Other names:

FH Paris-9; NM_000527.5(LDLR):c.2177C>T

HGVS:

NC_000019.10:g.11123210C>T
NG_009060.1:g.38830C>T
NM_000527.5:c.2177C>TMANE SELECT
NM_001195798.2:c.2177C>T
NM_001195799.2:c.2054C>T
NM_001195800.2:c.1673C>T
NM_001195803.2:c.1643C>T
NP_000518.1:p.Thr726Ile
NP_000518.1:p.Thr726Ile
NP_001182727.1:p.Thr726Ile
NP_001182728.1:p.Thr685Ile
NP_001182729.1:p.Thr558Ile
NP_001182732.1:p.Thr548Ile
LRG_274t1:c.2177C>T
LRG_274:g.38830C>T
LRG_274p1:p.Thr726Ile
NC_000019.9:g.11233886C>T
NM_000527.4:c.2177C>T
P01130:p.Thr726Ile
c.2177C>T

Protein change:

T548I

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001613; UniProtKB: P01130#VAR_005413

Molecular consequence:

NM_000527.5:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.2177C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.1673C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189586	Dept. of Genetics and Pharmacogenomics, Merck Research Labs	no classification provided (in vitro)	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID]
SCV000888164	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Jul 20, 2022)	unknown	clinical testing	PubMed (27) [See all records that cite these PMIDs] 10090484, 10790219, 11182933, 11857755, 1301940, 1301956, 15701167, 16159606, 16542394, 16735037, 17950741, 18607183, 19007590, 19319977, 19411563, 20428891, 21722902, 21935675, 7616128, 9003505, 9259195, 9544746, 28145427, 25647241, 15241806, 26892515, 26467025
SCV001151672	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (May 1, 2024)	germline	clinical testing	Citation Link,
SCV002048044	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Jun 29, 2023)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	21	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

Ebhardt M, Schmidt H, Doerk T, Tietge U, Haas R, Manns MP, Schmidtke J, Stuhrmann M.

Hum Mutat. 1999;13(3):257.

PubMed [citation]

PMID:: 10090484

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.

Mozas P, Cenarro A, Civeira F, Castillo S, Ros E, Pocovi M.

Hum Mutat. 2000 May;15(5):483-4.

PubMed [citation]

PMID:: 10790219

See all PubMed Citations (27)

Details of each submission

From Dept. of Genetics and Pharmacogenomics, Merck Research Labs, SCV000189586.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888164.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (27)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001151672.23

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	21	not provided	not provided	clinical testing	not provided

Description

LDLR: BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		21	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048044.4

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

#	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: Jun 23, 2024

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