16-75223146-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001906.6(CTRB1):c.242C>T(p.Ser81Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001906.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 17
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000328 AC: 3AN: 915754Hom.: 0 Cov.: 13 AF XY: 0.00000214 AC XY: 1AN XY: 466404
GnomAD4 genome Cov.: 17
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.242C>T (p.S81F) alteration is located in exon 4 (coding exon 4) of the CTRB1 gene. This alteration results from a C to T substitution at nucleotide position 242, causing the serine (S) at amino acid position 81 to be replaced by a phenylalanine (F). 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