7-37948932-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017549.5(EPDR1):c.362C>T(p.Pro121Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000677 in 1,614,040 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. P121T) has been classified as Uncertain significance.
Frequency
Consequence
NM_017549.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPDR1 | NM_017549.5 | c.362C>T | p.Pro121Leu | missense_variant | 2/3 | ENST00000199448.9 | |
EPDR1 | NM_001242948.2 | c.179C>T | p.Pro60Leu | missense_variant | 2/3 | ||
EPDR1 | NM_001242946.2 | c.270-1268C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPDR1 | ENST00000199448.9 | c.362C>T | p.Pro121Leu | missense_variant | 2/3 | 1 | NM_017549.5 | P1 | |
EPDR1 | ENST00000425345.1 | c.179C>T | p.Pro60Leu | missense_variant | 2/3 | 1 | |||
EPDR1 | ENST00000423717.1 | c.270-1268C>T | intron_variant | 1 | |||||
SFRP4 | ENST00000447200.2 | c.-52-22158G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000487 AC: 74AN: 152042Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000378 AC: 95AN: 251388Hom.: 0 AF XY: 0.000398 AC XY: 54AN XY: 135844
GnomAD4 exome AF: 0.000697 AC: 1019AN: 1461880Hom.: 0 Cov.: 30 AF XY: 0.000689 AC XY: 501AN XY: 727242
GnomAD4 genome ? AF: 0.000486 AC: 74AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.000524 AC XY: 39AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 21, 2021 | The c.362C>T (p.P121L) alteration is located in exon 2 (coding exon 2) of the EPDR1 gene. This alteration results from a C to T substitution at nucleotide position 362, causing the proline (P) at amino acid position 121 to be replaced by a leucine (L). 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