rs727503463
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_005422.4(TECTA):c.4471G>A(p.Gly1491Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,612,748 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005422.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248380Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134658
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460554Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726706
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.Gly1491Ser variant in TECTA has not been reported in individuals with hear ing loss or in large population studies. Computational prediction tools and con servation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gly1491Ser variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at