16-69187723-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006750.4(SNTB2):c.557C>T(p.Ala186Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000497 in 1,227,348 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.557C>T | p.Ala186Val | missense_variant | Exon 1 of 7 | ENST00000336278.9 | NP_006741.1 | |
SNTB2 | NR_172088.1 | n.560C>T | non_coding_transcript_exon_variant | Exon 1 of 8 | ||||
SNTB2 | NR_172089.1 | n.560C>T | non_coding_transcript_exon_variant | Exon 1 of 7 | ||||
SNTB2 | NR_172090.1 | n.560C>T | non_coding_transcript_exon_variant | Exon 1 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000478 AC: 6AN: 125434Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.0000499 AC: 55AN: 1101914Hom.: 0 Cov.: 38 AF XY: 0.0000478 AC XY: 26AN XY: 543718
GnomAD4 genome AF: 0.0000478 AC: 6AN: 125434Hom.: 0 Cov.: 29 AF XY: 0.0000668 AC XY: 4AN XY: 59836
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.557C>T (p.A186V) alteration is located in exon 1 (coding exon 1) of the SNTB2 gene. This alteration results from a C to T substitution at nucleotide position 557, causing the alanine (A) at amino acid position 186 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