6-7309937-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003144.5(SSR1):c.172G>A(p.Glu58Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,368 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 (★).
Frequency
Consequence
NM_003144.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSR1 | NM_003144.5 | c.172G>A | p.Glu58Lys | missense_variant | Exon 2 of 8 | ENST00000244763.9 | NP_003135.2 | |
SSR1 | NM_001292008.2 | c.172G>A | p.Glu58Lys | missense_variant | Exon 2 of 8 | NP_001278937.1 | ||
SSR1 | NR_120448.2 | n.251G>A | non_coding_transcript_exon_variant | Exon 2 of 7 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251340Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135858
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461368Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727024
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.172G>A (p.E58K) alteration is located in exon 2 (coding exon 2) of the SSR1 gene. This alteration results from a G to A substitution at nucleotide position 172, causing the glutamic acid (E) at amino acid position 58 to be replaced by a lysine (K). 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