chr15-43611493-ACTCACATCGTGCCTAG-A
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PP5_Moderate
The NM_153700.2(STRC):c.3128_3138+5delCTAGGCACGATGTGAG(p.Arg1044fs) variant causes a frameshift, splice donor, splice region, intron change. Variant has been reported in ClinVar as Likely pathogenic (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_153700.2 frameshift, splice_donor, splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 4
GnomAD4 genome Cov.: 4
ClinVar
Submissions by phenotype
Rare genetic deafness Pathogenic:1
The c.3128_3138+5del variant in STRC has been reported in one individual with he aring loss (Mandelker 2014, LMM data). Data from large population studies are i nsufficient to assess the frequency of this variant. This variant is a deletion of 16 nucleotides encompassing 11 nucleotides of exon 12 and 5 nucleotides of in tron 12, which includes the invariant region (+/- 1/2) of the splice consensus s equence. This deletion is predicted to cause altered splicing leading to an abno rmal or absent protein. Loss-of-function variants in the STRC gene are causative for autosomal recessive hearing loss. In summary, although additional studies a re required to fully establish its clinical significance, this variant is likely pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at