16-30122014-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002746.3(MAPK3):c.171-8C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000188 in 1,613,810 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002746.3 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAPK3 | NM_002746.3 | c.171-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000263025.9 | |||
MAPK3 | NM_001040056.3 | c.171-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
MAPK3 | NM_001109891.2 | c.171-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
MAPK3 | XR_243293.2 | n.182-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAPK3 | ENST00000263025.9 | c.171-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_002746.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152208Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000152 AC: 38AN: 249396Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 134992
GnomAD4 exome AF: 0.000193 AC: 282AN: 1461484Hom.: 1 Cov.: 31 AF XY: 0.000205 AC XY: 149AN XY: 727028
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152326Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 26, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at