chr12-122702333-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_177551.4(HCAR2):c.951G>A(p.Met317Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_177551.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HCAR2 | NM_177551.4 | c.951G>A | p.Met317Ile | missense_variant | Exon 1 of 1 | ENST00000328880.6 | NP_808219.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 33186AN: 145294Hom.: 3 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.121 AC: 140790AN: 1166210Hom.: 1 Cov.: 42 AF XY: 0.124 AC XY: 72600AN XY: 583724
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff AF: 0.228 AC: 33180AN: 145410Hom.: 3 Cov.: 32 AF XY: 0.224 AC XY: 15850AN XY: 70798
ClinVar
Submissions by phenotype
not provided Benign:3
This variant is associated with the following publications: (PMID: 25363768) -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at