chr11-57704768-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001317078.4(MED19):c.522G>T(p.Lys174Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000194 in 1,393,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001317078.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED19 | NM_001317078.4 | c.522G>T | p.Lys174Asn | missense_variant | Exon 3 of 5 | ENST00000431606.5 | NP_001304007.2 | |
MED19 | NM_153450.4 | c.522G>T | p.Lys174Asn | missense_variant | Exon 3 of 4 | NP_703151.3 | ||
MED19 | NR_157587.1 | n.558G>T | non_coding_transcript_exon_variant | Exon 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251460Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135910
GnomAD4 exome AF: 0.0000194 AC: 27AN: 1393684Hom.: 0 Cov.: 35 AF XY: 0.0000246 AC XY: 17AN XY: 692302
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.522G>T (p.K174N) alteration is located in exon 3 (coding exon 3) of the MED19 gene. This alteration results from a G to T substitution at nucleotide position 522, causing the lysine (K) at amino acid position 174 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at