1:235543481-235543498 TGTGTGTGTGTGTGTGTG > -

Classification

Category 4

curation

CMH MAF

478 / 13831 samples (3.46%)
461 het., 17 hom. (96.4%)
495 / 27662 total alleles (1.79%)

Genes

Consequences
gene: TBCE synonym(s): HRD, KCS, KCS1, pac2, TBCE, ENSG00000116957

NM_001079515.1 [intron]
hgvs_c: NM_001079515.1:c.100+48_100+65del
splice impact: five_prime_intronic
protein sequence: NP_001072983.1

NM_003193.3 [intron] Reportable
hgvs_c: NM_003193.3:c.100+48_100+65del
protein sequence: NP_003184.1

ClinVar

403520
clinvar_significance = Benign_Likely_benign
curated_classification = 4

Export Variant

Curation

Likely Benign