rs969984227
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017802.4(DNAAF5):c.447G>A(p.Leu149=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000858 in 1,165,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L149L) has been classified as Likely benign.
Frequency
Consequence
NM_017802.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF5 | NM_017802.4 | c.447G>A | p.Leu149= | synonymous_variant | 1/13 | ENST00000297440.11 | |
PRKAR1B | NM_001164760.2 | c.-23+43C>T | intron_variant | ENST00000537384.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF5 | ENST00000297440.11 | c.447G>A | p.Leu149= | synonymous_variant | 1/13 | 1 | NM_017802.4 | P1 | |
PRKAR1B | ENST00000537384.6 | c.-23+43C>T | intron_variant | 5 | NM_001164760.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.58e-7 AC: 1AN: 1165160Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 570478
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at