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NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 12, 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:
RCV002248285.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs)]

NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs)
HGVS:
  • NC_000019.10:g.11111630_11111634dup
  • NG_009060.1:g.27250_27254dup
  • NM_000527.5:c.1177_1181dupMANE SELECT
  • NM_001195798.2:c.1177_1181dup
  • NM_001195799.2:c.1054_1058dup
  • NM_001195800.2:c.673_677dup
  • NM_001195803.2:c.796_800dup
  • NP_000518.1:p.Val395fs
  • NP_001182727.1:p.Val395fs
  • NP_001182728.1:p.Val354fs
  • NP_001182729.1:p.Val227fs
  • NP_001182732.1:p.Val268fs
  • LRG_274t1:c.1177_1181dup
  • LRG_274:g.27250_27254dup
  • NC_000019.9:g.11222306_11222310dup
  • NM_000527.4:c.1177_1181dup
Protein change:
V227fs
Links:
dbSNP: rs2147241957
NCBI 1000 Genomes Browser:
rs2147241957
Molecular consequence:
  • NM_000527.5:c.1177_1181dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1177_1181dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1054_1058dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.673_677dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.796_800dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002520324GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002520324.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease

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

Last Updated: Dec 24, 2023