1-169596062-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003005.4(SELP):c.1964G>A(p.Cys655Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000756 in 1,613,900 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003005.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SELP | NM_003005.4 | c.1964G>A | p.Cys655Tyr | missense_variant | Exon 12 of 17 | ENST00000263686.11 | NP_002996.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251358Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135860
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461646Hom.: 0 Cov.: 31 AF XY: 0.0000660 AC XY: 48AN XY: 727134
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1964G>A (p.C655Y) alteration is located in exon 12 (coding exon 12) of the SELP gene. This alteration results from a G to A substitution at nucleotide position 1964, causing the cysteine (C) at amino acid position 655 to be replaced by a tyrosine (Y). 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