chr11-532635-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005343.4(HRAS):c.*1C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005343.4 3_prime_UTR
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HRAS | NM_005343.4 | c.*1C>G | 3_prime_UTR_variant | 5/6 | ENST00000311189.8 | NP_005334.1 | ||
HRAS | NM_176795.5 | c.*140C>G | 3_prime_UTR_variant | 6/6 | ENST00000417302.7 | NP_789765.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HRAS | ENST00000311189 | c.*1C>G | 3_prime_UTR_variant | 5/6 | 1 | NM_005343.4 | ENSP00000309845.7 | |||
HRAS | ENST00000417302 | c.*140C>G | 3_prime_UTR_variant | 6/6 | 5 | NM_176795.5 | ENSP00000388246.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458638Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725736
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.