chr5-56881916-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005921.2(MAP3K1):c.2716G>A(p.Val906Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.801 in 1,613,750 control chromosomes in the GnomAD database, including 520,423 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005921.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K1 | NM_005921.2 | c.2716G>A | p.Val906Ile | missense_variant | 14/20 | ENST00000399503.4 | |
MAP3K1 | XM_047417218.1 | c.2716G>A | p.Val906Ile | missense_variant | 14/18 | ||
MAP3K1 | XM_047417219.1 | c.2305G>A | p.Val769Ile | missense_variant | 15/21 | ||
MAP3K1 | XM_047417220.1 | c.2305G>A | p.Val769Ile | missense_variant | 15/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K1 | ENST00000399503.4 | c.2716G>A | p.Val906Ile | missense_variant | 14/20 | 1 | NM_005921.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.773 AC: 117429AN: 151824Hom.: 45752 Cov.: 30
GnomAD3 exomes AF: 0.758 AC: 188624AN: 248982Hom.: 72588 AF XY: 0.767 AC XY: 103576AN XY: 135060
GnomAD4 exome AF: 0.803 AC: 1174502AN: 1461808Hom.: 474617 Cov.: 60 AF XY: 0.803 AC XY: 583889AN XY: 727192
GnomAD4 genome AF: 0.774 AC: 117538AN: 151942Hom.: 45806 Cov.: 30 AF XY: 0.769 AC XY: 57084AN XY: 74254
ClinVar
Submissions by phenotype
46,XY sex reversal 6 Benign:3
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Benign, criteria provided, single submitter | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | Nov 02, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at