1-61016727-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655960.1(NFIA-AS2):n.272-27955C>G 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 0.546 in 151,908 control chromosomes in the GnomAD database, including 22,686 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
ENST00000655960.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFIA-AS2 | ENST00000655960.1 | n.272-27955C>G | intron_variant, non_coding_transcript_variant | ||||||
NFIA | ENST00000371191.5 | c.97-71422G>C | intron_variant | 5 | |||||
NFIA | ENST00000664495.1 | c.*119+42776G>C | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.545 AC: 82777AN: 151788Hom.: 22651 Cov.: 32
GnomAD4 genome ? AF: 0.546 AC: 82866AN: 151908Hom.: 22686 Cov.: 32 AF XY: 0.542 AC XY: 40186AN XY: 74202
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at