2-7059826-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664324.1(ENSG00000223884):n.712-13910T>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 0.487 in 152,122 control chromosomes in the GnomAD database, including 18,849 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
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 |
---|---|---|---|---|---|---|---|
RNF144A | NM_001349181.2 | c.748-13336A>G | intron_variant | ||||
RNF144A | NM_001349185.2 | c.748-8390A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664324.1 | n.712-13910T>C | intron_variant, non_coding_transcript_variant | |||||||
RNF144A | ENST00000432850.1 | c.735-8390A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.487 AC: 74096AN: 152004Hom.: 18835 Cov.: 32
GnomAD4 genome AF: 0.487 AC: 74142AN: 152122Hom.: 18849 Cov.: 32 AF XY: 0.493 AC XY: 36676AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at