rs375893752
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_005343.4(HRAS):c.282C>T(p.His94His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,461,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_005343.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HRAS | ENST00000311189.8 | c.282C>T | p.His94His | synonymous_variant | Exon 3 of 6 | 1 | NM_005343.4 | ENSP00000309845.7 | ||
HRAS | ENST00000417302.7 | c.282C>T | p.His94His | synonymous_variant | Exon 3 of 6 | 5 | NM_176795.5 | ENSP00000388246.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251188Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135864
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461040Hom.: 0 Cov.: 34 AF XY: 0.0000165 AC XY: 12AN XY: 726846
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Benign:1
His94His in exon 3 of HRAS: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located near a splice junction. -
not provided Benign:1
HRAS: BP4, BP7 -
Costello syndrome Benign:1
- -
Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
HRAS-related disorder Benign:1
This variant is classified as likely 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