rs647161
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_161235.1(PITX1-AS1):n.337-10640C>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.626 in 152,018 control chromosomes in the GnomAD database, including 30,260 homozygotes. 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
NR_161235.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PITX1-AS1 | NR_161235.1 | n.337-10640C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PITX1-AS1 | ENST00000624272.3 | n.331-10640C>A | intron_variant, non_coding_transcript_variant | 2 | |||||
PITX1-AS1 | ENST00000505828.5 | n.281-10640C>A | intron_variant, non_coding_transcript_variant | 4 | |||||
PITX1-AS1 | ENST00000513931.2 | n.210-10640C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.626 AC: 95130AN: 151900Hom.: 30240 Cov.: 32
GnomAD4 genome ? AF: 0.626 AC: 95171AN: 152018Hom.: 30260 Cov.: 32 AF XY: 0.628 AC XY: 46680AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at