chr15-44380871-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138423.4(GOLM2):c.967C>T(p.Arg323Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000357 in 1,597,802 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R323H) has been classified as Likely benign.
Frequency
Consequence
NM_138423.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GOLM2 | NM_138423.4 | c.967C>T | p.Arg323Cys | missense_variant | Exon 8 of 10 | ENST00000299957.11 | NP_612432.2 | |
GOLM2 | NM_177974.3 | c.967C>T | p.Arg323Cys | missense_variant | Exon 8 of 9 | NP_816929.1 | ||
GOLM2 | NR_157849.2 | n.2670C>T | non_coding_transcript_exon_variant | Exon 9 of 10 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000451 AC: 11AN: 243890Hom.: 0 AF XY: 0.0000379 AC XY: 5AN XY: 132096
GnomAD4 exome AF: 0.0000201 AC: 29AN: 1445580Hom.: 0 Cov.: 30 AF XY: 0.0000167 AC XY: 12AN XY: 718968
GnomAD4 genome AF: 0.000184 AC: 28AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.967C>T (p.R323C) alteration is located in exon 8 (coding exon 8) of the CASC4 gene. This alteration results from a C to T substitution at nucleotide position 967, causing the arginine (R) at amino acid position 323 to be replaced by a cysteine (C). 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