8-120693716-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021021.4(SNTB1):c.764T>A(p.Met255Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,674 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M255I) has been classified as Uncertain significance.
Frequency
Consequence
NM_021021.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SNTB1 | NM_021021.4 | c.764T>A | p.Met255Lys | missense_variant | 2/7 | ENST00000517992.2 | |
SNTB1 | XM_011517239.3 | c.764T>A | p.Met255Lys | missense_variant | 2/5 | ||
SNTB1 | XM_047422126.1 | c.185T>A | p.Met62Lys | missense_variant | 2/7 | ||
SNTB1 | XM_047422127.1 | c.185T>A | p.Met62Lys | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNTB1 | ENST00000517992.2 | c.764T>A | p.Met255Lys | missense_variant | 2/7 | 1 | NM_021021.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461674Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727144
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.764T>A (p.M255K) alteration is located in exon 2 (coding exon 2) of the SNTB1 gene. This alteration results from a T to A substitution at nucleotide position 764, causing the methionine (M) at amino acid position 255 to be replaced by a lysine (K). 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.