2-170965957-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015530.5(GORASP2):c.1186G>C(p.Asp396His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,613,754 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015530.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GORASP2 | NM_015530.5 | c.1186G>C | p.Asp396His | missense_variant | 10/10 | ENST00000234160.5 | |
GORASP2 | NM_001201428.2 | c.982G>C | p.Asp328His | missense_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GORASP2 | ENST00000234160.5 | c.1186G>C | p.Asp396His | missense_variant | 10/10 | 1 | NM_015530.5 | P1 | |
GORASP2 | ENST00000486498.1 | n.1452G>C | non_coding_transcript_exon_variant | 5/5 | 2 | ||||
GORASP2 | ENST00000442798.5 | c.*1218G>C | 3_prime_UTR_variant, NMD_transcript_variant | 11/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251222Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135806
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461768Hom.: 0 Cov.: 33 AF XY: 0.0000399 AC XY: 29AN XY: 727180
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 20, 2023 | The c.1186G>C (p.D396H) alteration is located in exon 10 (coding exon 10) of the GORASP2 gene. This alteration results from a G to C substitution at nucleotide position 1186, causing the aspartic acid (D) at amino acid position 396 to be replaced by a histidine (H). 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