7-135246455-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001394401.1(STRA8):āc.632C>Gā(p.Thr211Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000181 in 1,600,950 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_001394401.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STRA8 | NM_001394401.1 | c.632C>G | p.Thr211Ser | missense_variant | 6/9 | ENST00000662584.2 | |
STRA8 | NM_182489.3 | c.419C>G | p.Thr140Ser | missense_variant | 6/9 | ||
STRA8 | XM_011516137.3 | c.632C>G | p.Thr211Ser | missense_variant | 5/8 | ||
STRA8 | XM_047420324.1 | c.632C>G | p.Thr211Ser | missense_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STRA8 | ENST00000662584.2 | c.632C>G | p.Thr211Ser | missense_variant | 6/9 | NM_001394401.1 | P2 | ||
STRA8 | ENST00000275764.3 | c.485C>G | p.Thr162Ser | missense_variant | 6/9 | 1 | A2 | ||
ENST00000637483.1 | n.847G>C | non_coding_transcript_exon_variant | 5/5 | 5 | |||||
STRA8 | ENST00000667288.1 | c.419C>G | p.Thr140Ser | missense_variant | 6/9 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000222 AC: 5AN: 224790Hom.: 0 AF XY: 0.0000246 AC XY: 3AN XY: 121814
GnomAD4 exome AF: 0.0000186 AC: 27AN: 1448598Hom.: 0 Cov.: 31 AF XY: 0.0000195 AC XY: 14AN XY: 719416
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 23, 2023 | The c.485C>G (p.T162S) alteration is located in exon 6 (coding exon 6) of the STRA8 gene. This alteration results from a C to G substitution at nucleotide position 485, causing the threonine (T) at amino acid position 162 to be replaced by a serine (S). 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