16-69187587-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006750.4(SNTB2):āc.421C>Gā(p.Leu141Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000389 in 1,541,354 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006750.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNTB2 | NM_006750.4 | c.421C>G | p.Leu141Val | missense_variant | Exon 1 of 7 | ENST00000336278.9 | NP_006741.1 | |
SNTB2 | NR_172088.1 | n.424C>G | non_coding_transcript_exon_variant | Exon 1 of 8 | ||||
SNTB2 | NR_172089.1 | n.424C>G | non_coding_transcript_exon_variant | Exon 1 of 7 | ||||
SNTB2 | NR_172090.1 | n.424C>G | non_coding_transcript_exon_variant | Exon 1 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151300Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000360 AC: 5AN: 1390054Hom.: 0 Cov.: 31 AF XY: 0.00000291 AC XY: 2AN XY: 688430
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151300Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73906
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421C>G (p.L141V) alteration is located in exon 1 (coding exon 1) of the SNTB2 gene. This alteration results from a C to G substitution at nucleotide position 421, causing the leucine (L) at amino acid position 141 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