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 label mismatch: USH2A vs undefined
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_206933.2(USH2A):c.8320G>A (p.Ala2774Thr)

CA143621

48597 (ClinVar)

Gene: USH2A
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: c9b3064d-d16f-44c4-8462-5de03afd574b
Approved on: 2025-03-12
Published on: 2025-03-28

HGVS expressions

NM_206933.2:c.8320G>A
NM_206933.2(USH2A):c.8320G>A (p.Ala2774Thr)
NC_000001.11:g.215879002C>T
CM000663.2:g.215879002C>T
NC_000001.10:g.216052344C>T
CM000663.1:g.216052344C>T
NC_000001.9:g.214118967C>T
NG_009497.1:g.549395G>A
NG_009497.2:g.549447G>A
ENST00000307340.8:c.8320G>A
ENST00000674083.1:c.8320G>A
ENST00000307340.7:c.8320G>A
NM_206933.3:c.8320G>A
NM_206933.4:c.8320G>A
More

Likely Benign

Met criteria codes 2
BP4 BS1_Supporting
Not Met criteria codes 1
PP3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The filtering allele frequency of the p.Ala2774Thr variant in the USH2A gene is 0.07463% (931/1179918) of European (non-Finnish) chromosomes in gnomAD v4 (BS1_Supporting). The computational prediction analysis tool REVEL predicted a score of 0.052, which meets the threshold to apply BP4. In summary, this variant meets the criteria to be classified as likely benign based on the ACMG/AMP criteria applied, as specified by the ClinGen Hearing Loss VCEP: BS1_Supporting, BP4. (ClinGen Hearing Loss VCEP specifications version 2; 03/12/2025).
Met criteria codes
BP4
The computational prediction analysis tool REVEL predicted a score of 0.052, which meets the threshold to apply BP4.
BS1_Supporting
The filtering allele frequency of the p.Ala2774Thr variant in the USH2A gene is 0.07463% (931/1179918) of European (non-Finnish) chromosomes in gnomAD v4
Not Met criteria codes
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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