Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000527.5(LDLR):c.2388C>T (p.Ile796=)

CA040070

406165 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 03a6010c-aeee-44b8-8e4f-6b6060b33856
Approved on: 2025-03-28
Published on: 2025-06-30

HGVS expressions

NM_000527.5:c.2388C>T
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
NC_000019.10:g.11128084C>T
CM000681.2:g.11128084C>T
NC_000019.9:g.11238760C>T
CM000681.1:g.11238760C>T
NC_000019.8:g.11099760C>T
NG_009060.1:g.43704C>T
ENST00000252444.10:c.2646C>T
ENST00000559340.2:c.*457C>T
ENST00000560467.2:c.2268C>T
ENST00000558518.6:c.2388C>T
ENST00000252444.9:c.2642C>T
ENST00000455727.6:c.1884C>T
ENST00000535915.5:c.2265C>T
ENST00000545707.5:c.1854C>T
ENST00000557933.5:c.2388C>T
ENST00000558013.5:c.2388C>T
ENST00000558518.5:c.2388C>T
ENST00000560628.1:n.108+430C>T
NM_000527.4:c.2388C>T
NM_001195798.1:c.2388C>T
NM_001195799.1:c.2265C>T
NM_001195800.1:c.1884C>T
NM_001195803.1:c.1854C>T
NM_001195798.2:c.2388C>T
NM_001195799.2:c.2265C>T
NM_001195800.2:c.1884C>T
NM_001195803.2:c.1854C>T
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Uncertain Significance

Met criteria codes 1
PM2
Not Met criteria codes 5
BS3 BP7 BP4 PS3 PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR): c.2388C>T (p.Ile796=) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence code PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 28 March 2025. The supporting evidence is as follows: PM2: PopMax MAF= 0.00004238 (0.004238%) in European non-Finnish exomes + genomes (gnomAD v.4.1.0).
Met criteria codes
PM2
PopMax MAF= 0.00004238 (0.004238%) in European non-Finnish exomes + genomes (gnomAD v.4.1.0).
Not Met criteria codes
BS3
No functional studies.
BP7
Does not meet BP4
BP4
No REVEL, splicing evaluation required. A) located on limits Score in MES: Variant donor= 8.72, WT donor=9.86 Ratio variant / wt = 0.884 B) does not create GT C) not on limits
PS3
No functional studies.
PP3
No REVEL, splicing evaluation required. A) located on limits Score in MES: Variant donor= 8.72, WT donor=9.86 Ratio variant / wt = 0.884 B) does not create GT C) not on limits
Curation History
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