chr11-108510013-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_015065.3(EXPH5):āc.5494C>Gā(p.Arg1832Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00158 in 1,613,552 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_015065.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EXPH5 | NM_015065.3 | c.5494C>G | p.Arg1832Gly | missense_variant | 6/6 | ENST00000265843.9 | NP_055880.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EXPH5 | ENST00000265843.9 | c.5494C>G | p.Arg1832Gly | missense_variant | 6/6 | 1 | NM_015065.3 | ENSP00000265843 | P4 | |
EXPH5 | ENST00000525344.5 | c.5473C>G | p.Arg1825Gly | missense_variant | 7/7 | 1 | ENSP00000432546 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00852 AC: 1296AN: 152150Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.00199 AC: 498AN: 250760Hom.: 4 AF XY: 0.00137 AC XY: 186AN XY: 135548
GnomAD4 exome AF: 0.000851 AC: 1244AN: 1461284Hom.: 23 Cov.: 33 AF XY: 0.000685 AC XY: 498AN XY: 726930
GnomAD4 genome AF: 0.00853 AC: 1299AN: 152268Hom.: 11 Cov.: 32 AF XY: 0.00822 AC XY: 612AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | May 05, 2023 | - - |
EXPH5-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 06, 2024 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at