6-20115334-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080480.3(MBOAT1):c.1030A>G(p.Met344Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,184 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080480.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MBOAT1 | NM_001080480.3 | c.1030A>G | p.Met344Val | missense_variant | 10/13 | ENST00000324607.8 | |
MBOAT1 | XM_006714999.3 | c.934A>G | p.Met312Val | missense_variant | 10/13 | ||
MBOAT1 | NR_073465.2 | n.985A>G | non_coding_transcript_exon_variant | 7/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MBOAT1 | ENST00000324607.8 | c.1030A>G | p.Met344Val | missense_variant | 10/13 | 1 | NM_001080480.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251362Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135852
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461050Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726898
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.1030A>G (p.M344V) 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 1030, causing the methionine (M) at amino acid position 344 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