USH2A I1665T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


USH2A I1665T

(USH2A Ile1665Thr)

Short summary


Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Disease causing, p value: 0.596777; protein features (might be) affected (Detail: aa 32-5042 TOPO_DOMAIN Extracellular (potential) gets lost)
SIFT: Affect protein function 0.01
GVGD: GV 28.68; GD 69.84; Class C25
Multi-alignment of O75445.3 Usher syndrome 2A (autosomal recessive, mild) [Homo sapiens] with: XP_514197.2 [Pan troglodytes] XP_514197.2 [Pan troglodytes] XP_002760562.1 [Callithrix jacchus] XP_001915680.1 [Equus caballus] NP_001178354.1 [Bos taurus] XP_545710.2 [Canis familiaris] XP_002693994.1 [Bos taurus] XP_002924255.1 [Ailuropoda melanoleuca] XP_001375119.1 [Monodelphis domestica] EFB20486.1 [Ailuropoda melanoleuca] NP_067383.3 [Mus musculus]

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr1:216258213: 11.2% (1200/10754) in EVS
  • G @ chr1:214324835: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 11.2% (1200/10754)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr1:216258213


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr1:216258213


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr1:216258213




hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr1:216258213


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr1:216258213


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr1:216258213



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr1:216258213


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr1:216258213


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr1:216258213


huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr1:216258213


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:216258213


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:216258213


GS07357 - var-GS07357-1100-36-ASM
het G @ chr1:214324836


GS18956 - var-GS18956-1100-36-ASM
het G @ chr1:214324836


GS19701 - var-GS19701-1100-36-ASM
het G @ chr1:214324836




Other external references

  • rs56222536
  • GeneTests records for the USH2A gene
    Retinitis Pigmentosa, Autosomal Recessive
    Usher Syndrome Type 2
    USH2A-Related Retinitis Pigmentosa
    Usher Syndrome Type 2A
  • Score: 0.3 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in