U.S. flag

An official website of the United States government

NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 16, 2021
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:
RCV001804709.1

Allele description [Variation Report for NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)]

NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)

Gene:
LPL:lipoprotein lipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)
Other names:
S447*; LPL, SER447TER (rs328)
HGVS:
  • NC_000008.11:g.19962213C>G
  • NG_008855.2:g.65497C>G
  • NM_000237.3:c.1421C>GMANE SELECT
  • NP_000228.1:p.Ser474Ter
  • LRG_1298t1:c.1421C>G
  • LRG_1298:g.65497C>G
  • LRG_1298p1:p.Ser474Ter
  • NC_000008.10:g.19819724C>G
  • NG_008855.1:g.28143C>G
  • NM_000237.2:c.1421C>G
Protein change:
S474*; SER447TER
Links:
OMIM: 609708.0014; dbSNP: rs328
NCBI 1000 Genomes Browser:
rs328
Molecular consequence:
  • NM_000237.3:c.1421C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002051164Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Dec 16, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051164.1

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

Description

Variant summary: LPL c.1421C>G (p.Ser474X) results in a premature termination two codons before the normal termination codon. The variant allele was found at a frequency of 0.092 in 251182 control chromosomes in the gnomAD database, including 1212 homozygotes. The observed variant frequency is approximately 27-fold of the estimated maximal expected allele frequency for a pathogenic variant in LPL causing Familial Lipoprotein Lipase Deficiency phenotype (0.0034), strongly suggesting that the variant is benign. Three ClinVar submitters have assessed this variant since 2014: all have classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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

Last Updated: May 19, 2024