15-62067953-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_207322.3(C2CD4A):c.340A>T(p.Thr114Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000216 in 1,391,060 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_207322.3 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
GnomAD3 exomes AF: 0.00000725 AC: 1AN: 137974Hom.: 0 AF XY: 0.0000130 AC XY: 1AN XY: 76722
GnomAD4 exome AF: 0.00000216 AC: 3AN: 1391060Hom.: 0 Cov.: 31 AF XY: 0.00000291 AC XY: 2AN XY: 687980
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340A>T (p.T114S) alteration is located in exon 2 (coding exon 1) of the C2CD4A gene. This alteration results from a A to T substitution at nucleotide position 340, causing the threonine (T) at amino acid position 114 to be replaced by a serine (S). 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