14-22843420-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_004995.4(MMP14):c.850+2C>T variant causes a splice donor change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000658 in 1,611,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004995.4 splice_donor
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMP14 | NM_004995.4 | c.850+2C>T | splice_donor_variant | ENST00000311852.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMP14 | ENST00000311852.11 | c.850+2C>T | splice_donor_variant | 1 | NM_004995.4 | P1 | |||
MMP14 | ENST00000548162.2 | c.850+2C>T | splice_donor_variant | 5 | |||||
MMP14 | ENST00000680097.1 | c.*165+2C>T | splice_donor_variant, NMD_transcript_variant | ||||||
MMP14 | ENST00000680941.1 | c.*248+2C>T | splice_donor_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152080Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000601 AC: 15AN: 249494Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134868
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1459882Hom.: 0 Cov.: 32 AF XY: 0.0000523 AC XY: 38AN XY: 726210
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152080Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74284
ClinVar
Submissions by phenotype
Winchester syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | reference population | Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | Mar 18, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at