5-41000296-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173489.5(MROH2B):āc.4406A>Gā(p.Tyr1469Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_173489.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MROH2B | NM_173489.5 | c.4406A>G | p.Tyr1469Cys | missense_variant | 39/42 | ENST00000399564.5 | |
MROH2B | XM_011513952.2 | c.4406A>G | p.Tyr1469Cys | missense_variant | 39/43 | ||
MROH2B | XM_011513953.2 | c.4220A>G | p.Tyr1407Cys | missense_variant | 38/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MROH2B | ENST00000399564.5 | c.4406A>G | p.Tyr1469Cys | missense_variant | 39/42 | 1 | NM_173489.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248614Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134836
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461612Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 6AN XY: 727090
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 04, 2024 | The c.4406A>G (p.Y1469C) alteration is located in exon 39 (coding exon 39) of the MROH2B gene. This alteration results from a A to G substitution at nucleotide position 4406, causing the tyrosine (Y) at amino acid position 1469 to be replaced by a cysteine (C). 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