chr11-77878990-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033547.4(INTS4):āc.2851C>Gā(p.Pro951Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033547.4 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 |
---|---|---|---|---|---|---|---|
INTS4 | NM_033547.4 | c.2851C>G | p.Pro951Ala | missense_variant | 23/23 | ENST00000534064.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INTS4 | ENST00000534064.6 | c.2851C>G | p.Pro951Ala | missense_variant | 23/23 | 1 | NM_033547.4 | P3 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251472Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135912
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727224
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.2851C>G (p.P951A) alteration is located in exon 23 (coding exon 23) of the INTS4 gene. This alteration results from a C to G substitution at nucleotide position 2851, causing the proline (P) at amino acid position 951 to be replaced by an alanine (A). 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