7-135246442-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394401.1(STRA8):c.619A>G(p.Met207Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/20 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STRA8 | NM_001394401.1 | c.619A>G | p.Met207Val | missense_variant | 6/9 | ENST00000662584.2 | |
STRA8 | NM_182489.3 | c.406A>G | p.Met136Val | missense_variant | 6/9 | ||
STRA8 | XM_011516137.3 | c.619A>G | p.Met207Val | missense_variant | 5/8 | ||
STRA8 | XM_047420324.1 | c.619A>G | p.Met207Val | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STRA8 | ENST00000662584.2 | c.619A>G | p.Met207Val | missense_variant | 6/9 | NM_001394401.1 | P2 | ||
STRA8 | ENST00000275764.3 | c.472A>G | p.Met158Val | missense_variant | 6/9 | 1 | A2 | ||
ENST00000637483.1 | n.860T>C | non_coding_transcript_exon_variant | 5/5 | 5 | |||||
STRA8 | ENST00000667288.1 | c.406A>G | p.Met136Val | missense_variant | 6/9 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2022 | The c.472A>G (p.M158V) alteration is located in exon 6 (coding exon 6) of the STRA8 gene. This alteration results from a A to G substitution at nucleotide position 472, causing the methionine (M) at amino acid position 158 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.