11-1748064-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001170820.4(IFITM10):āc.140A>Gā(p.Asp47Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000755 in 1,417,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001170820.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFITM10 | NM_001170820.4 | c.140A>G | p.Asp47Gly | missense_variant | 2/3 | ENST00000340134.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFITM10 | ENST00000340134.5 | c.140A>G | p.Asp47Gly | missense_variant | 2/3 | 3 | NM_001170820.4 | P1 | |
IFITM10 | ENST00000482459.1 | n.1039A>G | non_coding_transcript_exon_variant | 1/2 | 1 | ||||
IFITM10 | ENST00000486852.1 | n.235A>G | non_coding_transcript_exon_variant | 2/2 | 5 | ||||
IFITM10 | ENST00000382123.1 | c.252A>G | p.Gly84= | synonymous_variant, NMD_transcript_variant | 3/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000102 AC: 4AN: 39068Hom.: 0 AF XY: 0.0000989 AC XY: 2AN XY: 20220
GnomAD4 exome AF: 0.0000790 AC: 100AN: 1265094Hom.: 0 Cov.: 31 AF XY: 0.0000702 AC XY: 43AN XY: 612606
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152128Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.140A>G (p.D47G) alteration is located in exon 2 (coding exon 2) of the IFITM10 gene. This alteration results from a A to G substitution at nucleotide position 140, causing the aspartic acid (D) at amino acid position 47 to be replaced by a glycine (G). 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