chr6-20112928-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001080480.3(MBOAT1):c.1157G>T(p.Gly386Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080480.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MBOAT1 | NM_001080480.3 | c.1157G>T | p.Gly386Val | missense_variant | Exon 11 of 13 | ENST00000324607.8 | NP_001073949.1 | |
MBOAT1 | XM_006714999.3 | c.1061G>T | p.Gly354Val | missense_variant | Exon 11 of 13 | XP_006715062.1 | ||
MBOAT1 | NR_073465.2 | n.1112G>T | non_coding_transcript_exon_variant | Exon 8 of 10 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251256Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135782
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461802Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727204
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1157G>T (p.G386V) 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 1157, causing the glycine (G) at amino acid position 386 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