4-56467659-G-A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_006947.4(SRP72):c.24G>A(p.Gly8=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000705 in 1,559,818 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G8G) has been classified as Likely benign.
Frequency
Consequence
NM_006947.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRP72 | NM_006947.4 | c.24G>A | p.Gly8= | synonymous_variant | 1/19 | ENST00000642900.1 | |
SRP72 | NM_001267722.2 | c.24G>A | p.Gly8= | synonymous_variant | 1/17 | ||
SRP72 | XM_024454192.2 | c.24G>A | p.Gly8= | synonymous_variant | 1/17 | ||
SRP72 | NR_151856.2 | n.43G>A | non_coding_transcript_exon_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRP72 | ENST00000642900.1 | c.24G>A | p.Gly8= | synonymous_variant | 1/19 | NM_006947.4 | P1 | ||
SRP72 | ENST00000510663.6 | c.24G>A | p.Gly8= | synonymous_variant | 1/17 | 1 | |||
SRP72 | ENST00000504757.2 | c.24G>A | p.Gly8= | synonymous_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000149 AC: 3AN: 201882Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 111848
GnomAD4 exome AF: 0.00000710 AC: 10AN: 1407552Hom.: 1 Cov.: 32 AF XY: 0.0000100 AC XY: 7AN XY: 699136
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152266Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74440
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at