11-69067500-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_139075.4(TPCN2):c.727-3T>C variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.979 in 1,612,790 control chromosomes in the GnomAD database, including 775,195 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_139075.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TPCN2 | NM_139075.4 | c.727-3T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000294309.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TPCN2 | ENST00000294309.8 | c.727-3T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_139075.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.940 AC: 143117AN: 152178Hom.: 67689 Cov.: 34
GnomAD3 exomes AF: 0.958 AC: 239154AN: 249760Hom.: 114900 AF XY: 0.962 AC XY: 129968AN XY: 135048
GnomAD4 exome AF: 0.983 AC: 1436388AN: 1460494Hom.: 707460 Cov.: 42 AF XY: 0.983 AC XY: 714364AN XY: 726568
GnomAD4 genome AF: 0.940 AC: 143222AN: 152296Hom.: 67735 Cov.: 34 AF XY: 0.940 AC XY: 69991AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at