chr17-43641948-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004527.4(MEOX1):c.727G>A(p.Glu243Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,614,090 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 (★). Synonymous variant affecting the same amino acid position (i.e. E243E) has been classified as Likely benign.
Frequency
Consequence
NM_004527.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEOX1 | NM_004527.4 | c.727G>A | p.Glu243Lys | missense_variant | 3/3 | ENST00000318579.9 | |
MEOX1 | NM_001040002.2 | c.382G>A | p.Glu128Lys | missense_variant | 4/4 | ||
MEOX1 | NM_013999.4 | c.554G>A | p.Ter185= | stop_retained_variant | 2/2 | ||
MEOX1 | XM_011524818.3 | c.*54G>A | 3_prime_UTR_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEOX1 | ENST00000318579.9 | c.727G>A | p.Glu243Lys | missense_variant | 3/3 | 1 | NM_004527.4 | P1 | |
MEOX1 | ENST00000549132.2 | c.554G>A | p.Ter185= | stop_retained_variant | 2/2 | 1 | |||
MEOX1 | ENST00000393661.2 | c.382G>A | p.Glu128Lys | missense_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249904Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135198
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461768Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727190
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74474
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.727G>A (p.E243K) alteration is located in exon 3 (coding exon 3) of the MEOX1 gene. This alteration results from a G to A substitution at nucleotide position 727, causing the glutamic acid (E) at amino acid position 243 to be replaced by a lysine (K). 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