Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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Variant: NM_000551.4(VHL):c.150C>G (p.Ala50=)

CA020051

43596 (ClinVar)

Gene: VHL

Condition: von Hippel-Lindau disease

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: cd4c6932-b320-49b5-9314-a042bbbdb1f7

Approved on: 2024-06-25

Published on: 2024-07-17

HGVS expressions

NM_000551.4:c.150C>G

NM_000551.4(VHL):c.150C>G (p.Ala50=)

NC_000003.12:g.10141997C>G

CM000665.2:g.10141997C>G

NC_000003.11:g.10183681C>G

CM000665.1:g.10183681C>G

NC_000003.10:g.10158681C>G

NG_008212.3:g.5363C>G

ENST00000696142.1:c.150C>G

ENST00000696143.1:c.150C>G

ENST00000696153.1:c.150C>G

ENST00000256474.3:c.150C>G

ENST00000256474.2:c.150C>G

ENST00000345392.2:c.150C>G

NM_000551.3:c.150C>G

NM_198156.2:c.150C>G

NM_001354723.1:c.150C>G

NM_001354723.2:c.150C>G

NM_198156.3:c.150C>G

Benign

BA1

Evidence Links 0

Expert Panel

VHL VCEP

Criteria Specification Information

Criteria Specification: ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

VHL VCEP

The variant NM_000551.4(VHL):c.150C>G (p.Ala50=) is a synonymous (silent) variant that is not predicted by SpliceAI or VarSeak to impact splicing. The GroupMax Filtering Allele Frequency (95% CI) in gnomAD v4.0.0 is 0.001000 (1222/1163922 from European, Non-Finnish Population). This is higher than the ClinGen VHL VCEP threshold of >=0.000156 (0.0156%) threshold expected for VHL disease (BA1). In summary, this variant meets the criteria to be classified as Benign for autosomal-dominant von Hippel Lindau syndrome (VHL syndrome) based on the ACMG/AMP criteria applied, as specified by the ClinGen VHL VCEP Version 1.0 (Specifications approval date: 02/26/2024. Variant Approval Date 06/25/2024).

BA1

The GroupMax Filtering Allele Frequency (95% CI) in gnomAD v4.1.0 is 0.001000 (1222/1163922 from European, Non-Finnish Population). This is higher than the ClinGen VHL VCEP threshold of >=0.000156 (0.0156%) threshold expected for VHL disease (BA1).

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