6-20115343-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001080480.3(MBOAT1):c.1021A>G(p.Ser341Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. S341N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080480.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MBOAT1 | NM_001080480.3 | c.1021A>G | p.Ser341Gly | missense_variant | 10/13 | ENST00000324607.8 | |
MBOAT1 | XM_006714999.3 | c.925A>G | p.Ser309Gly | missense_variant | 10/13 | ||
MBOAT1 | NR_073465.2 | n.976A>G | non_coding_transcript_exon_variant | 7/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MBOAT1 | ENST00000324607.8 | c.1021A>G | p.Ser341Gly | missense_variant | 10/13 | 1 | NM_001080480.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251356Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135848
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2023 | The c.1021A>G (p.S341G) alteration is located in exon 10 (coding exon 10) of the MBOAT1 gene. This alteration results from a A to G substitution at nucleotide position 1021, causing the serine (S) at amino acid position 341 to be replaced by a glycine (G). 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