2-5692783-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003108.4(SOX11):c.62C>T(p.Thr21Met) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,680 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T21T) has been classified as Likely benign.
Frequency
Consequence
NM_003108.4 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 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459680Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725858
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.