chr16-4509433-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002134.4(HMOX2):āc.718G>Cā(p.Ala240Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000691 in 1,614,064 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002134.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HMOX2 | NM_002134.4 | c.718G>C | p.Ala240Pro | missense_variant | 5/6 | ENST00000570646.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HMOX2 | ENST00000570646.6 | c.718G>C | p.Ala240Pro | missense_variant | 5/6 | 1 | NM_002134.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000611 AC: 93AN: 152088Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000883 AC: 222AN: 251318Hom.: 1 AF XY: 0.000906 AC XY: 123AN XY: 135814
GnomAD4 exome AF: 0.000702 AC: 1026AN: 1461862Hom.: 3 Cov.: 33 AF XY: 0.000755 AC XY: 549AN XY: 727228
GnomAD4 genome AF: 0.000591 AC: 90AN: 152202Hom.: 2 Cov.: 32 AF XY: 0.000551 AC XY: 41AN XY: 74406
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.718G>C (p.A240P) alteration is located in exon 6 (coding exon 4) of the HMOX2 gene. This alteration results from a G to C substitution at nucleotide position 718, causing the alanine (A) at amino acid position 240 to be replaced by a proline (P). 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