chr11-407550-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001135054.2(SIGIRR):c.500C>T(p.Ala167Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000162 in 1,608,342 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A167D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001135054.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIGIRR | NM_001135054.2 | c.500C>T | p.Ala167Val | missense_variant | 6/10 | ENST00000431843.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIGIRR | ENST00000431843.7 | c.500C>T | p.Ala167Val | missense_variant | 6/10 | 1 | NM_001135054.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000855 AC: 13AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000380 AC: 9AN: 237084Hom.: 0 AF XY: 0.0000231 AC XY: 3AN XY: 129778
GnomAD4 exome AF: 0.00000893 AC: 13AN: 1456212Hom.: 0 Cov.: 35 AF XY: 0.00000829 AC XY: 6AN XY: 723844
GnomAD4 genome ? AF: 0.0000855 AC: 13AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.500C>T (p.A167V) alteration is located in exon 6 (coding exon 5) of the SIGIRR gene. This alteration results from a C to T substitution at nucleotide position 500, causing the alanine (A) at amino acid position 167 to be replaced by a valine (V). 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