rs200856356
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_130810.4(DNAAF4):c.1204G>C(p.Val402Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000151 in 1,461,058 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V402I) has been classified as Uncertain significance.
Frequency
Consequence
NM_130810.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAAF4 | NM_130810.4 | c.1204G>C | p.Val402Leu | missense_variant | Exon 10 of 10 | ENST00000321149.7 | NP_570722.2 | |
DNAAF4 | NM_001033559.3 | c.1098G>C | p.Leu366Phe | missense_variant | Exon 9 of 9 | NP_001028731.1 | ||
DNAAF4 | NM_001033560.2 | c.1047+4176G>C | intron_variant | Intron 8 of 8 | NP_001028732.1 | |||
DNAAF4-CCPG1 | NR_037923.1 | n.1408+1768G>C | intron_variant | Intron 8 of 15 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251300 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461058Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726866 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at