chr10-27169975-T-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001172303.3(MASTL):c.1016T>A(p.Met339Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000914 in 1,613,554 control chromosomes in the GnomAD database, including 2 homozygotes. 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 Likely benign (★★).
Frequency
Consequence
NM_001172303.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MASTL | NM_001172303.3 | c.1016T>A | p.Met339Lys | missense_variant | 8/12 | ENST00000375940.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MASTL | ENST00000375940.9 | c.1016T>A | p.Met339Lys | missense_variant | 8/12 | 1 | NM_001172303.3 | P5 |
Frequencies
GnomAD3 genomes AF: 0.000624 AC: 95AN: 152166Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000670 AC: 168AN: 250812Hom.: 0 AF XY: 0.000738 AC XY: 100AN XY: 135566
GnomAD4 exome AF: 0.000944 AC: 1380AN: 1461270Hom.: 1 Cov.: 33 AF XY: 0.000955 AC XY: 694AN XY: 726974
GnomAD4 genome AF: 0.000624 AC: 95AN: 152284Hom.: 1 Cov.: 32 AF XY: 0.000510 AC XY: 38AN XY: 74470
ClinVar
Submissions by phenotype
MASTL-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 02, 2024 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Thrombocytopenia Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 12, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at