chr4-56483185-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006947.4(SRP72):c.872C>A(p.Ala291Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,611,350 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A291V) has been classified as Uncertain significance.
Frequency
Consequence
NM_006947.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRP72 | NM_006947.4 | c.872C>A | p.Ala291Glu | missense_variant | 9/19 | ENST00000642900.1 | |
SRP72 | NM_001267722.2 | c.689C>A | p.Ala230Glu | missense_variant | 7/17 | ||
SRP72 | XM_024454192.2 | c.872C>A | p.Ala291Glu | missense_variant | 9/17 | ||
SRP72 | NR_151856.2 | n.891C>A | non_coding_transcript_exon_variant | 9/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRP72 | ENST00000642900.1 | c.872C>A | p.Ala291Glu | missense_variant | 9/19 | NM_006947.4 | P1 | ||
SRP72 | ENST00000510663.6 | c.689C>A | p.Ala230Glu | missense_variant | 7/17 | 1 | |||
SRP72 | ENST00000505314.2 | c.726-1551C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459246Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725948
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at