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NM_000527.5(LDLR):c.804T>C (p.Val268=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 26, 2022
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:
RCV002419331.2

Allele description [Variation Report for NM_000527.5(LDLR):c.804T>C (p.Val268=)]

NM_000527.5(LDLR):c.804T>C (p.Val268=)

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.804T>C (p.Val268=)
HGVS:
  • NC_000019.10:g.11106674T>C
  • NG_009060.1:g.22294T>C
  • NM_000527.5:c.804T>CMANE SELECT
  • NM_001195798.2:c.804T>C
  • NM_001195799.2:c.681T>C
  • NM_001195800.2:c.314-718T>C
  • NM_001195803.2:c.423T>C
  • NP_000518.1:p.Val268=
  • NP_000518.1:p.Val268=
  • NP_001182727.1:p.Val268=
  • NP_001182728.1:p.Val227=
  • NP_001182732.1:p.Val141=
  • LRG_274t1:c.804T>C
  • LRG_274:g.22294T>C
  • LRG_274p1:p.Val268=
  • NC_000019.9:g.11217350T>C
  • NM_000527.4:c.804T>C
Molecular consequence:
  • NM_001195800.2:c.314-718T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.804T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195798.2:c.804T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195799.2:c.681T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195803.2:c.423T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002677528Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002677528.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024