1-25390838-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_020485.8(RHCE):āc.712A>Gā(p.Met238Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000723 in 1,613,758 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_020485.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHCE | NM_020485.8 | c.712A>G | p.Met238Val | missense_variant | 5/10 | ENST00000294413.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHCE | ENST00000294413.13 | c.712A>G | p.Met238Val | missense_variant | 5/10 | 1 | NM_020485.8 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00312 AC: 475AN: 152126Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000951 AC: 239AN: 251336Hom.: 0 AF XY: 0.000758 AC XY: 103AN XY: 135858
GnomAD4 exome AF: 0.000460 AC: 673AN: 1461514Hom.: 7 Cov.: 31 AF XY: 0.000419 AC XY: 305AN XY: 727090
GnomAD4 genome ? AF: 0.00324 AC: 493AN: 152244Hom.: 2 Cov.: 32 AF XY: 0.00314 AC XY: 234AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 24, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at