9-33295356-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002504.6(NFX1):c.962A>T(p.Asp321Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000105 in 1,614,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002504.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFX1 | NM_002504.6 | c.962A>T | p.Asp321Val | missense_variant | 2/24 | ENST00000379540.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFX1 | ENST00000379540.8 | c.962A>T | p.Asp321Val | missense_variant | 2/24 | 1 | NM_002504.6 | P1 | |
NFX1 | ENST00000318524.6 | c.962A>T | p.Asp321Val | missense_variant | 2/16 | 1 | |||
NFX1 | ENST00000379521.8 | n.1023A>T | non_coding_transcript_exon_variant | 2/21 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251370Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135856
GnomAD4 exome AF: 0.000110 AC: 161AN: 1461832Hom.: 0 Cov.: 31 AF XY: 0.000102 AC XY: 74AN XY: 727216
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at