chr6-20112992-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001080480.3(MBOAT1):c.1093G>T(p.Val365Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000075 in 1,613,788 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V365L) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MBOAT1 | NM_001080480.3 | c.1093G>T | p.Val365Phe | missense_variant | 11/13 | ENST00000324607.8 | |
MBOAT1 | XM_006714999.3 | c.997G>T | p.Val333Phe | missense_variant | 11/13 | ||
MBOAT1 | NR_073465.2 | n.1048G>T | non_coding_transcript_exon_variant | 8/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MBOAT1 | ENST00000324607.8 | c.1093G>T | p.Val365Phe | missense_variant | 11/13 | 1 | NM_001080480.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152202Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000116 AC: 29AN: 250778Hom.: 0 AF XY: 0.0000959 AC XY: 13AN XY: 135502
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461586Hom.: 0 Cov.: 31 AF XY: 0.0000770 AC XY: 56AN XY: 727094
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152202Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.1093G>T (p.V365F) alteration is located in exon 11 (coding exon 11) of the MBOAT1 gene. This alteration results from a G to T substitution at nucleotide position 1093, causing the valine (V) at amino acid position 365 to be replaced by a phenylalanine (F). 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