rs530211997
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015450.3(POT1):c.*998G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,038 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.
Frequency
Consequence
NM_015450.3 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8Inheritance: AD Classification: STRONG, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
- tumor predisposition syndrome 3Inheritance: AD Classification: MODERATE Submitted by: Ambry Genetics
- glioma susceptibility 9Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
- thyroid gland carcinomaInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
- cerebroretinal microangiopathy with calcifications and cysts 3Inheritance: AR Classification: LIMITED Submitted by: G2P, Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POT1 | NM_015450.3 | c.*998G>T | 3_prime_UTR_variant | Exon 19 of 19 | ENST00000357628.8 | NP_056265.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POT1 | ENST00000357628.8 | c.*998G>T | 3_prime_UTR_variant | Exon 19 of 19 | 2 | NM_015450.3 | ENSP00000350249.3 | |||
POT1 | ENST00000393329.5 | c.*998G>T | 3_prime_UTR_variant | Exon 18 of 18 | 5 | ENSP00000377002.1 | ||||
POT1 | ENST00000430927.6 | n.*425-413G>T | intron_variant | Intron 18 of 18 | 3 | ENSP00000397632.2 | ||||
POT1 | ENST00000436534.5 | n.392-413G>T | intron_variant | Intron 4 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152038Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 13844Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 7354
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74274 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at