chr7-763907-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017802.4(DNAAF5):c.1716G>T(p.Ala572=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,611,858 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. A572A) 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.1716G>T | p.Ala572= | synonymous_variant | 8/13 | ENST00000297440.11 | |
DNAAF5 | XM_024446813.2 | c.1716G>T | p.Ala572= | synonymous_variant | 8/12 | ||
DNAAF5 | NR_075098.2 | n.1676G>T | non_coding_transcript_exon_variant | 8/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF5 | ENST00000297440.11 | c.1716G>T | p.Ala572= | synonymous_variant | 8/13 | 1 | NM_017802.4 | P1 | |
DNAAF5 | ENST00000440747.5 | c.1122G>T | p.Ala374= | synonymous_variant | 8/13 | 2 | |||
DNAAF5 | ENST00000491496.1 | n.1G>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152264Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249506Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135180
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459594Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 6AN XY: 726204
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152264Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at