Variant: NM_000551.4(VHL):c.241C>T (p.Pro81Ser)

CA020148

2233 (ClinVar)

Gene: VHL

Condition: von Hippel-Lindau disease

Inheritance Mode: Autosomal dominant inheritance

UUID: 416afbe6-3dd6-40d9-9e61-d3c54b017b5e

Approved on: 2024-06-25

Published on: 2024-06-25

HGVS expressions

NM_000551.4:c.241C>T
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
NC_000003.12:g.10142088C>T
CM000665.2:g.10142088C>T
NC_000003.11:g.10183772C>T
CM000665.1:g.10183772C>T
NC_000003.10:g.10158772C>T
NG_008212.3:g.5454C>T
ENST00000696142.1:c.241C>T
ENST00000696143.1:c.241C>T
ENST00000696153.1:c.241C>T
ENST00000256474.3:c.241C>T
ENST00000256474.2:c.241C>T
ENST00000345392.2:c.241C>T
NM_000551.3:c.241C>T
NM_198156.2:c.241C>T
NM_001354723.1:c.241C>T
NM_001354723.2:c.241C>T
NM_198156.3:c.241C>T

Benign

• Met criteria codes: BA1

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

Evidence submitted by expert panel

VHL VCEP

The variant NM_000551.4(VHL):c.241C>T (p.Pro81Ser) is a missense variant in the first exon of the VHL gene. The GroupMax Filtering Allele Frequency (95% CI) in gnomAD v4.1.0 is 0.0004281 (543/1179690 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). Therefore this variant meets the criterion for (BA1) and is classified as Benign for autosomal-dominant von Hippel-Lindau disease (VHL disease) 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).

Met criteria codes

• BA1: The GroupMax Filtering Allele Frequency (95% CI) in gnomAD v4.1.0 is 0.0004281 (543/1179690 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).