rs727503448
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_153700.2(STRC):c.911C>T(p.Ala304Val) variant causes a missense 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 Uncertain significance (★).
Frequency
Consequence
NM_153700.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STRC | ENST00000450892.7 | c.911C>T | p.Ala304Val | missense_variant | Exon 4 of 29 | 5 | NM_153700.2 | ENSP00000401513.2 | ||
ENSG00000284772 | ENST00000643290.1 | n.*1074C>T | non_coding_transcript_exon_variant | Exon 6 of 9 | ENSP00000495476.1 | |||||
ENSG00000284772 | ENST00000643290.1 | n.*1074C>T | 3_prime_UTR_variant | Exon 6 of 9 | ENSP00000495476.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 86492Hom.: 0 Cov.: 10 FAILED QC
GnomAD3 exomes AF: 0.000206 AC: 11AN: 53470Hom.: 0 AF XY: 0.000222 AC XY: 6AN XY: 26980
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000151 AC: 65AN: 429932Hom.: 0 Cov.: 0 AF XY: 0.000132 AC XY: 30AN XY: 226602
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000231 AC: 2AN: 86492Hom.: 0 Cov.: 10 AF XY: 0.0000509 AC XY: 2AN XY: 39310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The Ala304Val variant in STRC has not been previously reported in individuals wi th hearing loss. Data from large population studies is insufficient to assess t he frequency of this variant. Computational prediction tools and conservation an alyses do not provide strong support for or against an impact to the protein. In summary, additional information is needed to determine the clinical significanc e of this variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at