6-70856869-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001044305.3(SMAP1):c.800C>G(p.Ser267Cys) 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. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001044305.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMAP1 | ENST00000370455.8 | c.800C>G | p.Ser267Cys | missense_variant | Exon 9 of 11 | 1 | NM_001044305.3 | ENSP00000359484.3 | ||
B3GAT2 | ENST00000230053 | c.*4794G>C | 3_prime_UTR_variant | Exon 4 of 4 | 1 | NM_080742.3 | ENSP00000230053.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.800C>G (p.S267C) alteration is located in exon 9 (coding exon 9) of the SMAP1 gene. This alteration results from a C to G substitution at nucleotide position 800, causing the serine (S) at amino acid position 267 to be replaced by a cysteine (C). 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.