chr4-109828059-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006583.5(RRH):āc.32A>Gā(p.Asp11Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,612,284 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_006583.5 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 |
---|---|---|---|---|---|---|---|
RRH | NM_006583.5 | c.32A>G | p.Asp11Gly | missense_variant | 1/7 | ENST00000317735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RRH | ENST00000317735.7 | c.32A>G | p.Asp11Gly | missense_variant | 1/7 | 1 | NM_006583.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251270Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135804
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460186Hom.: 0 Cov.: 29 AF XY: 0.00000413 AC XY: 3AN XY: 726450
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.32A>G (p.D11G) alteration is located in exon 1 (coding exon 1) of the RRH gene. This alteration results from a A to G substitution at nucleotide position 32, causing the aspartic acid (D) at amino acid position 11 to be replaced by a glycine (G). 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