chr19-7909830-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145185.4(MAP2K7):c.200C>T(p.Pro67Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145185.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP2K7 | NM_145185.4 | c.200C>T | p.Pro67Leu | missense_variant | 2/11 | ENST00000397979.4 | |
MAP2K7 | NM_001297555.2 | c.248C>T | p.Pro83Leu | missense_variant | 3/12 | ||
MAP2K7 | NM_001297556.2 | c.200C>T | p.Pro67Leu | missense_variant | 2/11 | ||
MAP2K7 | XM_006722800.3 | c.248C>T | p.Pro83Leu | missense_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP2K7 | ENST00000397979.4 | c.200C>T | p.Pro67Leu | missense_variant | 2/11 | 1 | NM_145185.4 | P4 | |
MAP2K7 | ENST00000397983.7 | c.248C>T | p.Pro83Leu | missense_variant | 3/12 | 1 | A1 | ||
MAP2K7 | ENST00000397981.7 | c.200C>T | p.Pro67Leu | missense_variant | 2/11 | 1 | |||
MAP2K7 | ENST00000468058.1 | n.265C>T | non_coding_transcript_exon_variant | 2/10 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1389122Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 685174
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.200C>T (p.P67L) alteration is located in exon 2 (coding exon 2) of the MAP2K7 gene. This alteration results from a C to T substitution at nucleotide position 200, causing the proline (P) at amino acid position 67 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.