7-30778474-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_032222.3(MINDY4):c.106C>T(p.Arg36Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000917 in 1,614,208 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MINDY4 | ENST00000265299.6 | c.106C>T | p.Arg36Cys | missense_variant | Exon 2 of 18 | 1 | NM_032222.3 | ENSP00000265299.6 | ||
INMT-MINDY4 | ENST00000458257.5 | n.*193C>T | non_coding_transcript_exon_variant | Exon 4 of 20 | 2 | ENSP00000456039.1 | ||||
INMT-MINDY4 | ENST00000458257.5 | n.*193C>T | 3_prime_UTR_variant | Exon 4 of 20 | 2 | ENSP00000456039.1 |
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152254Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000289 AC: 72AN: 249558Hom.: 1 AF XY: 0.000347 AC XY: 47AN XY: 135402
GnomAD4 exome AF: 0.0000746 AC: 109AN: 1461836Hom.: 1 Cov.: 31 AF XY: 0.0000908 AC XY: 66AN XY: 727224
GnomAD4 genome AF: 0.000256 AC: 39AN: 152372Hom.: 1 Cov.: 33 AF XY: 0.000255 AC XY: 19AN XY: 74516
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.106C>T (p.R36C) 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 106, causing the arginine (R) at amino acid position 36 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