NM_003532.3:c.67A>C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003532.3(H3C6):āc.67A>Cā(p.Thr23Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T23A) has been classified as Uncertain significance.
Frequency
Consequence
NM_003532.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
H3C6 | ENST00000614911.3 | c.67A>C | p.Thr23Pro | missense_variant | Exon 1 of 1 | 6 | NM_003532.3 | ENSP00000482271.1 | ||
H3C6 | ENST00000634733.1 | c.67A>C | p.Thr23Pro | missense_variant | Exon 2 of 2 | 1 | ENSP00000489282.1 | |||
ENSG00000291336 | ENST00000707189.1 | n.999+101050A>C | intron_variant | Intron 1 of 1 | ||||||
ENSG00000291338 | ENST00000707191.1 | n.1000+67100A>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458158Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725332
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at