chr7-135246463-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001394401.1(STRA8):c.640G>A(p.Gly214Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000313 in 1,598,932 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394401.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STRA8 | NM_001394401.1 | c.640G>A | p.Gly214Arg | missense_variant | 6/9 | ENST00000662584.2 | |
STRA8 | NM_182489.3 | c.427G>A | p.Gly143Arg | missense_variant | 6/9 | ||
STRA8 | XM_011516137.3 | c.640G>A | p.Gly214Arg | missense_variant | 5/8 | ||
STRA8 | XM_047420324.1 | c.640G>A | p.Gly214Arg | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STRA8 | ENST00000662584.2 | c.640G>A | p.Gly214Arg | missense_variant | 6/9 | NM_001394401.1 | P2 | ||
STRA8 | ENST00000275764.3 | c.493G>A | p.Gly165Arg | missense_variant | 6/9 | 1 | A2 | ||
ENST00000637483.1 | n.839C>T | non_coding_transcript_exon_variant | 5/5 | 5 | |||||
STRA8 | ENST00000667288.1 | c.427G>A | p.Gly143Arg | missense_variant | 6/9 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000453 AC: 1AN: 220588Hom.: 0 AF XY: 0.00000837 AC XY: 1AN XY: 119460
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1446728Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718266
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 14, 2023 | The c.493G>A (p.G165R) alteration is located in exon 6 (coding exon 6) of the STRA8 gene. This alteration results from a G to A substitution at nucleotide position 493, causing the glycine (G) at amino acid position 165 to be replaced by an arginine (R). 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