chr3-156992712-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004316.3(LEKR1):c.887C>T(p.Ser296Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000455 in 879,344 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_001004316.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LEKR1 | ENST00000356539.9 | c.887C>T | p.Ser296Phe | missense_variant | Exon 8 of 13 | 5 | NM_001004316.3 | ENSP00000348936.4 | ||
LEKR1 | ENST00000470811.6 | n.*365C>T | non_coding_transcript_exon_variant | Exon 9 of 14 | 2 | ENSP00000418214.2 | ||||
LEKR1 | ENST00000470811.6 | n.*365C>T | 3_prime_UTR_variant | Exon 9 of 14 | 2 | ENSP00000418214.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000455 AC: 4AN: 879344Hom.: 0 Cov.: 12 AF XY: 0.00000232 AC XY: 1AN XY: 431228
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.887C>T (p.S296F) alteration is located in exon 8 (coding exon 7) of the LEKR1 gene. This alteration results from a C to T substitution at nucleotide position 887, causing the serine (S) at amino acid position 296 to be replaced by a phenylalanine (F). 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