chr1-160486744-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_001184714.2(SLAMF6):c.962C>T(p.Thr321Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,728 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001184714.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLAMF6 | NM_001184714.2 | c.962C>T | p.Thr321Ile | missense_variant | 8/8 | ENST00000368057.8 | NP_001171643.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLAMF6 | ENST00000368057.8 | c.962C>T | p.Thr321Ile | missense_variant | 8/8 | 1 | NM_001184714.2 | ENSP00000357036 | A2 | |
SLAMF6 | ENST00000368059.7 | c.959C>T | p.Thr320Ile | missense_variant | 8/8 | 1 | ENSP00000357038 | P4 | ||
SLAMF6 | ENST00000368055.1 | c.629C>T | p.Thr210Ile | missense_variant | 7/7 | 2 | ENSP00000357034 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250744Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135470
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461554Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727086
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 30, 2024 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at