rs200365972
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 3P and 5B. PVS1_SupportingPM2BP6BS1
The NM_001256714.1(DNAAF3):āc.2T>Cā(p.Met1?) variant causes a start lost change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00023 in 1,613,088 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001256714.1 start_lost
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00122 AC: 186AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000302 AC: 75AN: 248354Hom.: 0 AF XY: 0.000282 AC XY: 38AN XY: 134826
GnomAD4 exome AF: 0.000125 AC: 183AN: 1460766Hom.: 0 Cov.: 32 AF XY: 0.000110 AC XY: 80AN XY: 726670
GnomAD4 genome AF: 0.00123 AC: 188AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.00122 AC XY: 91AN XY: 74472
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
- -
- -
Primary ciliary dyskinesia Benign:2
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at