7-107694438-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 2P and 11B. PM2BP4_ModerateBP6_Very_StrongBP7
The NM_000441.2(SLC26A4):c.1299C>T(p.Ile433Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000441.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250884Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135576
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461362Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727006
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
Ile433Ile in exon 11 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at