chr7-741410-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_017802.4(DNAAF5):c.969C>T(p.Asp323=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000702 in 1,425,318 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.
Frequency
Consequence
NM_017802.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF5 | NM_017802.4 | c.969C>T | p.Asp323= | synonymous_variant | 4/13 | ENST00000297440.11 | |
DNAAF5 | XM_024446813.2 | c.969C>T | p.Asp323= | synonymous_variant | 4/12 | ||
DNAAF5 | NR_075098.2 | n.929C>T | non_coding_transcript_exon_variant | 4/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF5 | ENST00000297440.11 | c.969C>T | p.Asp323= | synonymous_variant | 4/13 | 1 | NM_017802.4 | P1 | |
DNAAF5 | ENST00000440747.5 | c.375C>T | p.Asp125= | synonymous_variant | 4/13 | 2 | |||
DNAAF5 | ENST00000437419.5 | c.288C>T | p.Asp96= | synonymous_variant | 3/5 | 5 | |||
DNAAF5 | ENST00000438961.1 | n.438C>T | non_coding_transcript_exon_variant | 4/5 | 4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000521 AC: 1AN: 191912Hom.: 0 AF XY: 0.00000981 AC XY: 1AN XY: 101910
GnomAD4 exome AF: 7.02e-7 AC: 1AN: 1425318Hom.: 0 Cov.: 36 AF XY: 0.00000142 AC XY: 1AN XY: 705192
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at