rs996613711
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_003954.5(MAP3K14):c.1720G>A(p.Asp574Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,234 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003954.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAP3K14 | NM_003954.5 | c.1720G>A | p.Asp574Asn | missense_variant | 10/16 | ENST00000344686.8 | |
MAP3K14 | XM_047436997.1 | c.1720G>A | p.Asp574Asn | missense_variant | 10/15 | ||
MAP3K14 | XM_047436998.1 | c.1720G>A | p.Asp574Asn | missense_variant | 11/16 | ||
MAP3K14 | XM_011525441.3 | c.1720G>A | p.Asp574Asn | missense_variant | 11/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAP3K14 | ENST00000344686.8 | c.1720G>A | p.Asp574Asn | missense_variant | 10/16 | 1 | NM_003954.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248636Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135000
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461234Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726914
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
NIK deficiency Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 28, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at