rs1256336794
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012144.4(DNAI1):c.1264T>C(p.Phe422Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000806 in 1,612,660 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F422S) has been classified as Uncertain significance.
Frequency
Consequence
NM_012144.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAI1 | NM_012144.4 | c.1264T>C | p.Phe422Leu | missense_variant | 13/20 | ENST00000242317.9 | |
DNAI1 | NM_001281428.2 | c.1276T>C | p.Phe426Leu | missense_variant | 13/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAI1 | ENST00000242317.9 | c.1264T>C | p.Phe422Leu | missense_variant | 13/20 | 1 | NM_012144.4 | ||
DNAI1 | ENST00000614641.4 | c.1276T>C | p.Phe426Leu | missense_variant | 13/20 | 5 | P1 | ||
DNAI1 | ENST00000470169.5 | c.202T>C | p.Phe68Leu | missense_variant, NMD_transcript_variant | 1/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151556Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250964Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135660
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461104Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726884
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151556Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74064
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2021 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Dec 22, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at