16-69245679-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006750.4(SNTB2):c.658C>A(p.Pro220Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006750.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTB2 | NM_006750.4 | c.658C>A | p.Pro220Thr | missense_variant | Exon 2 of 7 | ENST00000336278.9 | NP_006741.1 | |
SNTB2 | NR_172088.1 | n.747C>A | non_coding_transcript_exon_variant | Exon 3 of 8 | ||||
SNTB2 | NR_172089.1 | n.648C>A | non_coding_transcript_exon_variant | Exon 2 of 7 | ||||
SNTB2 | NR_172090.1 | n.661C>A | non_coding_transcript_exon_variant | Exon 2 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.658C>A (p.P220T) alteration is located in exon 2 (coding exon 2) of the SNTB2 gene. This alteration results from a C to A substitution at nucleotide position 658, causing the proline (P) at amino acid position 220 to be replaced by a threonine (T). 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.