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 label mismatch: LDLR vs undefined
  • 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.737G>A (p.Gly246Glu)

CA10585106

251427 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 1fd58f71-cbf7-4c2d-bd61-3afc0cd37159
Approved on: 2023-01-27
Published on: 2025-03-21

HGVS expressions

NM_000527.5:c.737G>A
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)
NC_000019.10:g.11106607G>A
CM000681.2:g.11106607G>A
NC_000019.9:g.11217283G>A
CM000681.1:g.11217283G>A
NC_000019.8:g.11078283G>A
NG_009060.1:g.22227G>A
ENST00000252444.10:c.995G>A
ENST00000559340.2:c.737G>A
ENST00000560467.2:c.737G>A
ENST00000558518.6:c.737G>A
ENST00000252444.9:c.991G>A
ENST00000455727.6:c.314-785G>A
ENST00000535915.5:c.614G>A
ENST00000545707.5:c.356G>A
ENST00000557933.5:c.737G>A
ENST00000558013.5:c.737G>A
ENST00000558518.5:c.737G>A
ENST00000558528.1:n.252G>A
ENST00000560467.1:c.337G>A
NM_000527.4:c.737G>A
NM_001195798.1:c.737G>A
NM_001195799.1:c.614G>A
NM_001195800.1:c.314-785G>A
NM_001195803.1:c.356G>A
NM_001195798.2:c.737G>A
NM_001195799.2:c.614G>A
NM_001195800.2:c.314-785G>A
NM_001195803.2:c.356G>A
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Uncertain Significance

Met criteria codes 2
PP3 PM2
Not Met criteria codes 20
PS2 PS4 PS3 PS1 BA1 PP4 PP1 PM6 PM3 PM1 PM4 PM5 PVS1 BS2 BS4 BS3 BS1 BP2 BP4 BP7

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.737G>A (p.Gly246Glu) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PM2 and PP3 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 27 January 2023. The supporting evidence is as follows: PM2: This variant is absent from gnomAD (gnomAD version 2.1.1) PP3: REVEL score is 0.877, this is greater than 0.75.
Met criteria codes
PP3
REVEL score is .877, this is greater than 0.75.
PM2
This variant is absent from gnomAD (gnomAD version 2.1.1)
Not Met criteria codes
PS2
Not met.
PS4
Not met.
PS3
Not met.
PS1
Not met.
BA1
Not met.
PP4
Not met.
PP1
Not met.
PM6
Not met.
PM3
Not met.
PM1
Not met.
PM4
Not met.
PM5
Not met.
PVS1
Not met.
BS2
Not met.
BS4
Not met.
BS3
Not met.
BS1
Not met.
BP2
Not met.
BP4
Not met.
BP7
Not met.
Curation History
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