6-136567644-T-C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP2BP4_StrongBP6_ModerateBS1BS2
The NM_005923.4(MAP3K5):c.3748A>G(p.Ile1250Val) variant causes a missense change. The variant allele was found at a frequency of 0.000948 in 1,613,808 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005923.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K5 | NM_005923.4 | c.3748A>G | p.Ile1250Val | missense_variant | 26/30 | ENST00000359015.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K5 | ENST00000359015.5 | c.3748A>G | p.Ile1250Val | missense_variant | 26/30 | 1 | NM_005923.4 | P1 | |
MAP3K5 | ENST00000698928.1 | c.4075A>G | p.Ile1359Val | missense_variant | 27/31 |
Frequencies
GnomAD3 genomes ? AF: 0.000848 AC: 129AN: 152208Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00185 AC: 465AN: 250744Hom.: 5 AF XY: 0.00179 AC XY: 243AN XY: 135472
GnomAD4 exome AF: 0.000959 AC: 1401AN: 1461482Hom.: 22 Cov.: 31 AF XY: 0.000900 AC XY: 654AN XY: 726996
GnomAD4 genome ? AF: 0.000847 AC: 129AN: 152326Hom.: 3 Cov.: 32 AF XY: 0.000993 AC XY: 74AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at