4-106358296-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195138.2(GIMD1):āc.541T>Cā(p.Tyr181His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000362 in 1,380,804 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001195138.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GIMD1 | NM_001195138.2 | c.541T>C | p.Tyr181His | missense_variant | 3/3 | ENST00000638719.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GIMD1 | ENST00000638719.4 | c.541T>C | p.Tyr181His | missense_variant | 3/3 | 5 | NM_001195138.2 | P1 | |
GIMD1 | ENST00000507153.2 | c.541T>C | p.Tyr181His | missense_variant | 2/2 | 2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000362 AC: 5AN: 1380804Hom.: 1 Cov.: 31 AF XY: 0.00000147 AC XY: 1AN XY: 681330
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 09, 2021 | The c.541T>C (p.Y181H) alteration is located in exon 2 (coding exon 2) of the GIMD1 gene. This alteration results from a T to C substitution at nucleotide position 541, causing the tyrosine (Y) at amino acid position 181 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
Publications
No publications associated with this variant yet.