chr4-56467659-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_006947.4(SRP72):c.24G>T(p.Gly8=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000142 in 1,407,552 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRP72 | NM_006947.4 | c.24G>T | p.Gly8= | synonymous_variant | 1/19 | ENST00000642900.1 | |
SRP72 | NM_001267722.2 | c.24G>T | p.Gly8= | synonymous_variant | 1/17 | ||
SRP72 | XM_024454192.2 | c.24G>T | p.Gly8= | synonymous_variant | 1/17 | ||
SRP72 | NR_151856.2 | n.43G>T | non_coding_transcript_exon_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRP72 | ENST00000642900.1 | c.24G>T | p.Gly8= | synonymous_variant | 1/19 | NM_006947.4 | P1 | ||
SRP72 | ENST00000510663.6 | c.24G>T | p.Gly8= | synonymous_variant | 1/17 | 1 | |||
SRP72 | ENST00000504757.2 | c.24G>T | p.Gly8= | synonymous_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1407552Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 699136
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at