rs727503453
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Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_153700.2(STRC):c.333G>T(p.Gly111=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.011 ( 0 hom., cov: 17)
Exomes 𝑓: 0.0012 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
STRC
NM_153700.2 synonymous
NM_153700.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.675
Genes affected
STRC (HGNC:16035): (stereocilin) This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.29).
BP6
?
Variant 15-43618088-C-A is Benign according to our data. Variant chr15-43618088-C-A is described in ClinVar as [Benign]. Clinvar id is 165325.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr15-43618088-C-A is described in Lovd as [Benign].
BP7
?
Synonymous conserved (PhyloP=0.675 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STRC | NM_153700.2 | c.333G>T | p.Gly111= | synonymous_variant | 2/29 | ENST00000450892.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STRC | ENST00000450892.7 | c.333G>T | p.Gly111= | synonymous_variant | 2/29 | 5 | NM_153700.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1380AN: 130064Hom.: 0 Cov.: 17 FAILED QC
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GnomAD3 exomes AF: 0.00244 AC: 348AN: 142582Hom.: 0 AF XY: 0.00191 AC XY: 148AN XY: 77544
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00116 AC: 1600AN: 1379144Hom.: 0 Cov.: 22 AF XY: 0.000942 AC XY: 647AN XY: 687124
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GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0106 AC: 1379AN: 130192Hom.: 0 Cov.: 17 AF XY: 0.0100 AC XY: 630AN XY: 62944
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jun 26, 2013 | Gly111Gly in Exon 02 of STRC: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3.9% (16/408) of chrom osomes from African populations by the 1000Genomes project (as reported in the D eafness Variation Database: http://deafnessvariationdatabase.org). - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at