7-98217783-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015395.3(TECPR1):c.3293G>A(p.Gly1098Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,550,946 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015395.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TECPR1 | NM_015395.3 | c.3293G>A | p.Gly1098Asp | missense_variant | Exon 25 of 26 | ENST00000447648.7 | NP_056210.1 | |
TECPR1 | XM_005250253.5 | c.3293G>A | p.Gly1098Asp | missense_variant | Exon 25 of 26 | XP_005250310.1 | ||
TECPR1 | XM_017011937.2 | c.3191G>A | p.Gly1064Asp | missense_variant | Exon 24 of 25 | XP_016867426.1 | ||
TECPR1 | XM_047420119.1 | c.3191G>A | p.Gly1064Asp | missense_variant | Exon 24 of 25 | XP_047276075.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000390 AC: 6AN: 153892Hom.: 0 AF XY: 0.0000367 AC XY: 3AN XY: 81842
GnomAD4 exome AF: 0.00000786 AC: 11AN: 1398608Hom.: 0 Cov.: 34 AF XY: 0.00000725 AC XY: 5AN XY: 689826
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3293G>A (p.G1098D) alteration is located in exon 25 (coding exon 23) of the TECPR1 gene. This alteration results from a G to A substitution at nucleotide position 3293, causing the glycine (G) at amino acid position 1098 to be replaced by an aspartic acid (D). 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