6-7301521-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003144.5(SSR1):c.332G>A(p.Gly111Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000942 in 1,613,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003144.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSR1 | NM_003144.5 | c.332G>A | p.Gly111Asp | missense_variant | Exon 4 of 8 | ENST00000244763.9 | NP_003135.2 | |
SSR1 | NM_001292008.2 | c.281-153G>A | intron_variant | Intron 3 of 7 | NP_001278937.1 | |||
SSR1 | NR_120448.2 | n.411G>A | non_coding_transcript_exon_variant | Exon 4 of 7 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251112Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135724
GnomAD4 exome AF: 0.0000924 AC: 135AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.0000935 AC XY: 68AN XY: 727140
GnomAD4 genome AF: 0.000112 AC: 17AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.332G>A (p.G111D) alteration is located in exon 4 (coding exon 4) of the SSR1 gene. This alteration results from a G to A substitution at nucleotide position 332, causing the glycine (G) at amino acid position 111 to be replaced by an aspartic acid (D). 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