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]

Variant: NM_000527.5(LDLR):c.694+25C>T

CA044382

251406 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: 56aaefac-d400-4477-a67e-91703e9a8be8
Approved on: 2023-04-28
Published on: 2023-05-01

HGVS expressions

NM_000527.5:c.694+25C>T
NM_000527.5(LDLR):c.694+25C>T
NC_000019.10:g.11105625C>T
CM000681.2:g.11105625C>T
NC_000019.9:g.11216301C>T
CM000681.1:g.11216301C>T
NC_000019.8:g.11077301C>T
NG_009060.1:g.21245C>T
ENST00000558518.6:c.694+25C>T
ENST00000252444.9:n.948+25C>T
ENST00000455727.6:c.314-1767C>T
ENST00000535915.5:c.571+25C>T
ENST00000545707.5:c.314-940C>T
ENST00000557933.5:c.694+25C>T
ENST00000558013.5:c.694+25C>T
ENST00000558518.5:c.694+25C>T
ENST00000560467.1:n.294+25C>T
NM_000527.4:c.694+25C>T
NM_001195798.1:c.694+25C>T
NM_001195799.1:c.571+25C>T
NM_001195800.1:c.314-1767C>T
NM_001195803.1:c.314-940C>T
NM_001195798.2:c.694+25C>T
NM_001195799.2:c.571+25C>T
NM_001195800.2:c.314-1767C>T
NM_001195803.2:c.314-940C>T
More

Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 21
PS2 PS4 PS3 PS1 PP4 PP1 PP3 PM3 PM1 PM4 PM5 PVS1 PM6 PM2 BA1 BS2 BS4 BS3 BS1 BP2 BP3

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

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
The NM_000527.5(LDLR):c.694+25C>T variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: BP4: The variant is not predicted to affect the splicing process by SpliceAI. So, BP4 is met.
Met criteria codes
BP4
The variant is not predicted to affect the splicing process by SpliceAI. So, BP4 is met.
Not Met criteria codes
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
Variant does not meet PM2
PS3
No data available
PS1
Intronic variant
PP4
No data available
PP1
No data available
PP3
Intronic variant
PM3
No data available
PM1
Intronic variant
PM4
No in-frame deletions/insertions
PM5
Intronic variant
PVS1
Not a null variant
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
PopMax MAF=0.00212 (0.212%) in Latino exomes+genomes (gnomAD v2.1.1).
BA1
FAF=0.001766 (0.1766%) in Latino/Admixed American exomes+genomes (gnomAD v2.1.1).
BS2
No data available
BS4
No data available
BS3
No data available
BS1
FAF=0.001766 (0.1766%) in Latino/Admixed American exomes+genomes (gnomAD v2.1.1).
BP2
No data available
BP3
No in-frame deletions/insertions
Curation History
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