4-139889767-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018717.5(MAML3):c.1669A>G(p.Met557Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,940 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 (★).
Frequency
Consequence
NM_018717.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAML3 | NM_018717.5 | c.1669A>G | p.Met557Val | missense_variant | Exon 2 of 5 | ENST00000509479.6 | NP_061187.3 | |
MAML3 | XM_047415929.1 | c.1669A>G | p.Met557Val | missense_variant | Exon 2 of 5 | XP_047271885.1 | ||
MAML3 | XM_047415930.1 | c.1669A>G | p.Met557Val | missense_variant | Exon 2 of 3 | XP_047271886.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249318Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135252
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461712Hom.: 0 Cov.: 92 AF XY: 0.00000550 AC XY: 4AN XY: 727138
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1657A>G (p.M553V) alteration is located in exon 2 (coding exon 2) of the MAML3 gene. This alteration results from a A to G substitution at nucleotide position 1657, causing the methionine (M) at amino acid position 553 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