chr17-45264774-G-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003954.5(MAP3K14):c.2706C>G(p.Val902Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.724 in 1,612,602 control chromosomes in the GnomAD database, including 423,481 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003954.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.739 AC: 112402AN: 152002Hom.: 41747 Cov.: 32
GnomAD3 exomes AF: 0.716 AC: 176317AN: 246148Hom.: 63303 AF XY: 0.711 AC XY: 95106AN XY: 133686
GnomAD4 exome AF: 0.722 AC: 1055113AN: 1460482Hom.: 381710 Cov.: 62 AF XY: 0.720 AC XY: 522990AN XY: 726414
GnomAD4 genome AF: 0.739 AC: 112470AN: 152120Hom.: 41771 Cov.: 32 AF XY: 0.736 AC XY: 54742AN XY: 74356
ClinVar
Submissions by phenotype
not provided Benign:1Other:1
Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. -
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 97% of patients studied by a panel of primary immunodeficiencies. Number of patients: 93. Only high quality variants are reported. -
NIK deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at