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.139G>T (p.Asp47Tyr)

CA404074852

996231 (ClinVar)

Gene: LDLR
Condition: hypercholesterolemia, familial
Inheritance Mode: Semidominant inheritance
Link to MONDO
UUID: e55cf58f-0739-42c2-9c49-f118cf6328eb
Approved on: 2022-03-30
Published on: 2022-07-12

HGVS expressions

NM_000527.5:c.139G>T
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)
NC_000019.10:g.11100294G>T
CM000681.2:g.11100294G>T
NC_000019.9:g.11210970G>T
CM000681.1:g.11210970G>T
NC_000019.8:g.11071970G>T
NG_009060.1:g.15914G>T
ENST00000558518.6:c.139G>T
ENST00000252444.9:n.393G>T
ENST00000455727.6:c.139G>T
ENST00000535915.5:c.139G>T
ENST00000545707.5:c.139G>T
ENST00000557933.5:c.139G>T
ENST00000557958.1:n.225G>T
ENST00000558013.5:c.139G>T
ENST00000558518.5:c.139G>T
ENST00000560502.5:n.225G>T
NM_000527.4:c.139G>T
NM_001195798.1:c.139G>T
NM_001195799.1:c.139G>T
NM_001195800.1:c.139G>T
NM_001195803.1:c.139G>T
NM_001195798.2:c.139G>T
NM_001195799.2:c.139G>T
NM_001195800.2:c.139G>T
NM_001195803.2:c.139G>T
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Uncertain Significance

Met criteria codes 2
PM2 PP3
Not Met criteria codes 24
PM6 BA1 PM3 PM1 PM4 PM5 BS2 PVS1 BS4 BS3 BS1 BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1 PP4 PP1 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.1

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Familial Hypercholesterolemia VCEP
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes (PM2 and PP3) 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: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1). PP3 - REVEL = 0.962
Met criteria codes
PM2
This variant is absent from gnomAD (gnomAD v2.1.1).
PP3
REVEL = 0,962
Not Met criteria codes
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
2 other missense variants in the same codon: - NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) (ClinVar ID 251034) Uncertain significance by these guidelines. - NM_000527.5(LDLR):c.139G>C (p.Asp47His) (ClinVar ID 440546) Uncertain significance by these guidelines. There is no variant in the same codon classified as Pathogenic by these guidelines.
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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