NM_001009944.3:c.*845_*846insTGTGTGTGTGCGCG
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS1
The NM_001009944.3(PKD1):c.*845_*846insTGTGTGTGTGCGCG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001009944.3 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- tuberous sclerosisInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- tuberous sclerosis 2Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae), G2P, Genomics England PanelApp, Ambry Genetics
- lymphangioleiomyomatosisInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- tuberous sclerosis complexInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PKD1 | NM_001009944.3 | c.*845_*846insTGTGTGTGTGCGCG | 3_prime_UTR_variant | Exon 46 of 46 | ENST00000262304.9 | NP_001009944.3 | ||
TSC2 | NM_000548.5 | c.*272_*273insGCGCACACACACAC | 3_prime_UTR_variant | Exon 42 of 42 | ENST00000219476.9 | NP_000539.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PKD1 | ENST00000262304.9 | c.*845_*846insTGTGTGTGTGCGCG | 3_prime_UTR_variant | Exon 46 of 46 | 1 | NM_001009944.3 | ENSP00000262304.4 | |||
TSC2 | ENST00000219476.9 | c.*272_*273insGCGCACACACACAC | 3_prime_UTR_variant | Exon 42 of 42 | 5 | NM_000548.5 | ENSP00000219476.3 |
Frequencies
GnomAD3 genomes AF: 0.000266 AC: 39AN: 146614Hom.: 0 Cov.: 0 show subpopulations
GnomAD4 exome AF: 0.0000218 AC: 6AN: 274764Hom.: 0 Cov.: 0 AF XY: 0.0000207 AC XY: 3AN XY: 145206 show subpopulations
GnomAD4 genome AF: 0.000266 AC: 39AN: 146718Hom.: 0 Cov.: 0 AF XY: 0.000334 AC XY: 24AN XY: 71760 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at