7-30778468-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032222.3(MINDY4):c.100C>T(p.Arg34Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032222.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MINDY4 | ENST00000265299.6 | c.100C>T | p.Arg34Cys | missense_variant | Exon 2 of 18 | 1 | NM_032222.3 | ENSP00000265299.6 | ||
INMT-MINDY4 | ENST00000458257.5 | n.*187C>T | non_coding_transcript_exon_variant | Exon 4 of 20 | 2 | ENSP00000456039.1 | ||||
INMT-MINDY4 | ENST00000458257.5 | n.*187C>T | 3_prime_UTR_variant | Exon 4 of 20 | 2 | ENSP00000456039.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249556Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135396
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461856Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 727228
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.100C>T (p.R34C) alteration is located in exon 2 (coding exon 2) of the FAM188B gene. This alteration results from a C to T substitution at nucleotide position 100, causing the arginine (R) at amino acid position 34 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