chr19-7910773-C-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_145185.4(MAP2K7):c.645C>A(p.Pro215=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00578 in 1,610,106 control chromosomes in the GnomAD database, including 43 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. P215P) has been classified as Benign.
Frequency
Consequence
NM_145185.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP2K7 | NM_145185.4 | c.645C>A | p.Pro215= | synonymous_variant | 6/11 | ENST00000397979.4 | |
MAP2K7 | NM_001297555.2 | c.693C>A | p.Pro231= | synonymous_variant | 7/12 | ||
MAP2K7 | NM_001297556.2 | c.645C>A | p.Pro215= | synonymous_variant | 6/11 | ||
MAP2K7 | XM_006722800.3 | c.693C>A | p.Pro231= | synonymous_variant | 7/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP2K7 | ENST00000397979.4 | c.645C>A | p.Pro215= | synonymous_variant | 6/11 | 1 | NM_145185.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00339 AC: 514AN: 151720Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00407 AC: 983AN: 241312Hom.: 1 AF XY: 0.00425 AC XY: 562AN XY: 132280
GnomAD4 exome AF: 0.00603 AC: 8792AN: 1458274Hom.: 41 Cov.: 35 AF XY: 0.00602 AC XY: 4365AN XY: 725408
GnomAD4 genome AF: 0.00337 AC: 511AN: 151832Hom.: 2 Cov.: 33 AF XY: 0.00276 AC XY: 205AN XY: 74200
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at