1-204122336-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005686.3(SOX13):c.961C>T(p.Arg321Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000896 in 1,562,126 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005686.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SOX13 | NM_005686.3 | c.961C>T | p.Arg321Cys | missense_variant | Exon 9 of 14 | ENST00000367204.6 | NP_005677.2 | |
SOX13 | XM_047435006.1 | c.961C>T | p.Arg321Cys | missense_variant | Exon 9 of 14 | XP_047290962.1 | ||
SOX13 | XM_005245623.4 | c.958C>T | p.Arg320Cys | missense_variant | Exon 9 of 14 | XP_005245680.1 | ||
SOX13 | XM_047435007.1 | c.958C>T | p.Arg320Cys | missense_variant | Exon 9 of 14 | XP_047290963.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000567 AC: 1AN: 176506Hom.: 0 AF XY: 0.0000106 AC XY: 1AN XY: 94736
GnomAD4 exome AF: 0.00000851 AC: 12AN: 1410004Hom.: 0 Cov.: 32 AF XY: 0.0000100 AC XY: 7AN XY: 697778
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.961C>T (p.R321C) alteration is located in exon 9 (coding exon 8) of the SOX13 gene. This alteration results from a C to T substitution at nucleotide position 961, causing the arginine (R) at amino acid position 321 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at