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NM_000229.2(LCAT):c.93C>G (p.Leu31=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 8, 2023
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:
RCV004522823.1

Allele description [Variation Report for NM_000229.2(LCAT):c.93C>G (p.Leu31=)]

NM_000229.2(LCAT):c.93C>G (p.Leu31=)

Genes:
LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
SLC12A4:solute carrier family 12 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_000229.2(LCAT):c.93C>G (p.Leu31=)
HGVS:
  • NC_000016.10:g.67944009G>C
  • NG_009778.1:g.5104C>G
  • NG_033098.1:g.29686C>G
  • NM_000229.2:c.93C>GMANE SELECT
  • NM_001145961.2:c.*831C>G
  • NM_001145962.1:c.*831C>G
  • NM_001145963.2:c.*831C>G
  • NM_001145964.2:c.*831C>G
  • NM_005072.5:c.*831C>GMANE SELECT
  • NP_000220.1:p.Leu31=
  • NC_000016.9:g.67977912G>C
  • NM_000229.1:c.93C>G
Molecular consequence:
  • NM_001145961.2:c.*831C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145962.1:c.*831C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145963.2:c.*831C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001145964.2:c.*831C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005072.5:c.*831C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000229.2:c.93C>G - 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
SCV005033149Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 8, 2023) 		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, SCV005033149.1

#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 1, 2024