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 related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_000527.5(LDLR):c.690C>T (p.Asn230=)

CA10585082

251395 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 34eb5088-44b4-43bf-b1c1-787f6fac0d98
Approved on: 2025-01-31
Published on: 2025-03-09

HGVS expressions

NM_000527.5:c.690C>T
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
NC_000019.10:g.11105596C>T
CM000681.2:g.11105596C>T
NC_000019.9:g.11216272C>T
CM000681.1:g.11216272C>T
NC_000019.8:g.11077272C>T
NG_009060.1:g.21216C>T
ENST00000252444.10:c.948C>T
ENST00000559340.2:c.690C>T
ENST00000560467.2:c.690C>T
ENST00000558518.6:c.690C>T
ENST00000252444.9:c.944C>T
ENST00000455727.6:c.314-1796C>T
ENST00000535915.5:c.567C>T
ENST00000545707.5:c.314-969C>T
ENST00000557933.5:c.690C>T
ENST00000558013.5:c.690C>T
ENST00000558518.5:c.690C>T
ENST00000560467.1:c.290C>T
NM_000527.4:c.690C>T
NM_001195798.1:c.690C>T
NM_001195799.1:c.567C>T
NM_001195800.1:c.314-1796C>T
NM_001195803.1:c.314-969C>T
NM_001195798.2:c.690C>T
NM_001195799.2:c.567C>T
NM_001195800.2:c.314-1796C>T
NM_001195803.2:c.314-969C>T
More

Likely Benign

Met criteria codes 3
PM2 BP4 BP7
Not Met criteria codes 18
BA1 PP4 PP1 PP3 PVS1 PM3 PM1 PM4 PM6 BS2 BS4 BS3 BS1 BP2 BP3 PS2 PS4 PS3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR):c.690C>T (p.Asn230=) variant is classified as Likely Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PM2, BP4, and BP7 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on January 31, 2025. Variant has 2 Supporting evidence codes towards Benign, enough to classify as Likely benign and only 1 Moderate evidence codes towards Pathogenic, so we are confident in classifying this variant as Likely benign. The supporting evidence is as follows: PM2: This variant is absent from gnomAD (gnomAD v4.1.0). So, PM2 is met. BP4: No REVEL found. Splicing evaluation required. Functional data on splicing not available. A) not on limits B) does not create GT C) no GT nearby Variant is not predicted to alter splicing. So, BP4 is met. BP7: Variant is synonymous and meets BP4.
Met criteria codes
PM2
This variant is absent from gnomAD (gnomAD v4.1.0). So, PM2 is met.
BP4
No REVEL found. Splicing evaluation required. Functional data on splicing not available. A) not on limits B) does not create GT C) no GT nearby Variant is not predicted to alter splicing. So, BP4 is met.
BP7
Variant is synonymous and meets BP4.
Not Met criteria codes
BA1
This variant is absent from gnomAD (gnomAD v4.1.0).
PP4
No data available
PP1
No data available
PP3
No REVEL found. Splicing evaluation required. Functional data on splicing not available. A) not on limits B) does not create GT C) no GT nearby Variant is not predicted to alter splicing.
PVS1
Not a null variant
PM3
No data available
PM1
Not a missense variant
PM4
No in-frame deletions/insertions
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No data available
BS4
No data available
BS3
No data available
BS1
This variant is absent from gnomAD (gnomAD v4.1.0).
BP2
No data available
BP3
No in-frame deletions/insertions
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No data available
PS3
No data available
Curation History
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