NM_004596.5:c.768G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004596.5(SNRPA):c.768G>T(p.Gln256His) variant causes a missense change. The variant allele was found at a frequency of 0.00000314 in 1,592,146 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004596.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNRPA | ENST00000243563.8 | c.768G>T | p.Gln256His | missense_variant | Exon 6 of 6 | 1 | NM_004596.5 | ENSP00000243563.2 | ||
SNRPA | ENST00000601393.1 | c.705G>T | p.Gln235His | missense_variant | Exon 6 of 6 | 3 | ENSP00000472355.1 | |||
SNRPA | ENST00000596860.1 | n.214G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000278 AC: 4AN: 1439926Hom.: 0 Cov.: 31 AF XY: 0.00000419 AC XY: 3AN XY: 716066
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.768G>T (p.Q256H) alteration is located in exon 6 (coding exon 6) of the SNRPA gene. This alteration results from a G to T substitution at nucleotide position 768, causing the glutamine (Q) at amino acid position 256 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at