chr5-41000741-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173489.5(MROH2B):c.4287A>C(p.Glu1429Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000986 in 1,611,774 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. E1429E) has been classified as Likely benign.
Frequency
Consequence
NM_173489.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MROH2B | NM_173489.5 | c.4287A>C | p.Glu1429Asp | missense_variant | 38/42 | ENST00000399564.5 | |
MROH2B | XM_011513952.2 | c.4287A>C | p.Glu1429Asp | missense_variant | 38/43 | ||
MROH2B | XM_011513953.2 | c.4101A>C | p.Glu1367Asp | missense_variant | 37/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MROH2B | ENST00000399564.5 | c.4287A>C | p.Glu1429Asp | missense_variant | 38/42 | 1 | NM_173489.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152012Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000410 AC: 10AN: 243750Hom.: 0 AF XY: 0.0000227 AC XY: 3AN XY: 132092
GnomAD4 exome AF: 0.000105 AC: 154AN: 1459762Hom.: 1 Cov.: 32 AF XY: 0.000118 AC XY: 86AN XY: 725908
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152012Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 21, 2023 | The c.4287A>C (p.E1429D) alteration is located in exon 38 (coding exon 38) of the MROH2B gene. This alteration results from a A to C substitution at nucleotide position 4287, causing the glutamic acid (E) at amino acid position 1429 to be replaced by an aspartic acid (D). 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