chr12-64609189-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000546135.1(RASSF3-DT):n.115+156A>C 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 0.444 in 151,624 control chromosomes in the GnomAD database, including 15,480 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
ENST00000546135.1 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 |
---|---|---|---|---|---|---|---|
RASSF3-DT | XR_945027.3 | n.747+156A>C | intron_variant, non_coding_transcript_variant | ||||
RASSF3 | XM_047428711.1 | c.249+67484T>G | intron_variant | ||||
RASSF3 | XM_047428712.1 | c.402+67484T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASSF3-DT | ENST00000546135.1 | n.115+156A>C | intron_variant, non_coding_transcript_variant | 3 | |||||
RASSF3 | ENST00000637125.1 | c.294+67484T>G | intron_variant | 5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.444 AC: 67293AN: 151506Hom.: 15456 Cov.: 30
GnomAD4 genome AF: 0.444 AC: 67356AN: 151624Hom.: 15480 Cov.: 30 AF XY: 0.439 AC XY: 32508AN XY: 74082
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at